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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:
CA983656013
Gene: NR1D1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1987824970
gnomAD v3:
17-40099156-C-G
gnomAD v4:
17-40099156-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40099156C>G , CM000679.2:g.40099156C>G
GRCh38
NC_000017.10:g.38255409C>G , CM000679.1:g.38255409C>G
GRCh37
NC_000017.9:g.35508935C>G
NCBI36
NG_033084.1:g.6570G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246672.4:c.31+908G>C
MANE Select
ENSP00000246672.3:n.31+908G>C
ENST00000246672.3:c.31+908G>C
ENSP00000246672.3:n.31+908G>C
NM_021724.4:c.31+908G>C
NP_068370.1:n.31+908G>C
NM_021724.5:c.31+908G>C
MANE Select
NP_068370.1:n.31+908G>C
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