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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:
CA2259395251
Gene: NR1D1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1987824747
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40099152del , CM000679.2:g.40099152del
GRCh38
NC_000017.10:g.38255405del , CM000679.1:g.38255405del
GRCh37
NC_000017.9:g.35508931del
NCBI36
NG_033084.1:g.6575del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246672.4:c.31+913del
MANE Select
ENSP00000246672.3:n.31+913del
ENST00000246672.3:c.31+913del
ENSP00000246672.3:n.31+913del
NM_021724.4:c.31+913del
NP_068370.1:n.31+913del
NM_021724.5:c.31+913del
MANE Select
NP_068370.1:n.31+913del
Search 100 bp 5'
Search 100 bp 3'