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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:
CA157884841
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1337502
ClinVar RCV Id:
RCV001820516
dbSNP Id:
rs182891400
gnomAD v3:
7-44189487-G-A
gnomAD v4:
7-44189487-G-A
MyVariant Identifiers:
chr7:g.44229086G>A (hg19)
chr7:g.44189487G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.44189487G>A , CM000669.2:g.44189487G>A
GRCh38
NC_000007.13:g.44229086G>A , CM000669.1:g.44229086G>A
GRCh37
NC_000007.12:g.44195611G>A
NCBI36
NG_008847.1:g.4937C>T
NG_008847.2:g.13684C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000476008.1:n.480+8204C>T
Search 100 bp 5'
Search 100 bp 3'