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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:
CA2259395294
Gene: NR1D1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40099221_40099223delinsCGA , CM000679.2:g.40099221_40099223delinsCGA
GRCh38
NC_000017.10:g.38255474_38255476delinsCGA , CM000679.1:g.38255474_38255476delinsCGA
GRCh37
NC_000017.9:g.35509000_35509002delinsCGA
NCBI36
NG_033084.1:g.6503_6505delinsTCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000246672.4:c.31+841_31+843delinsTCG
MANE Select
ENSP00000246672.3:n.31+841_31+843delinsTCG
ENST00000246672.3:c.31+841_31+843delinsTCG
ENSP00000246672.3:n.31+841_31+843delinsTCG
NM_021724.4:c.31+841_31+843delinsTCG
NP_068370.1:n.31+841_31+843delinsTCG
NM_021724.5:c.31+841_31+843delinsTCG
MANE Select
NP_068370.1:n.31+841_31+843delinsTCG
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