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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2506123449
Gene: NR1D1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40099407_40099408insTTGGAAAA , CM000679.2:g.40099407_40099408insTTGGAAAA
GRCh38
NC_000017.10:g.38255660_38255661insTTGGAAAA , CM000679.1:g.38255660_38255661insTTGGAAAA
GRCh37
NC_000017.9:g.35509186_35509187insTTGGAAAA
NCBI36
NG_033084.1:g.6318_6319insTTTTCCAA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246672.4:c.31+656_31+657insTTTTCCAA
MANE Select
ENSP00000246672.3:n.31+656_31+657insTTTTCCAA
ENST00000246672.3:c.31+656_31+657insTTTTCCAA
ENSP00000246672.3:n.31+656_31+657insTTTTCCAA
NM_021724.4:c.31+656_31+657insTTTTCCAA
NP_068370.1:n.31+656_31+657insTTTTCCAA
NM_021724.5:c.31+656_31+657insTTTTCCAA
MANE Select
NP_068370.1:n.31+656_31+657insTTTTCCAA
Search 100 bp 5'
Search 100 bp 3'