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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:
CA1703653872
Gene: GCK
HGNC
NCBI
Linked Data
dbSNP Id:
rs2096325043
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.44189480del , CM000669.2:g.44189480del
GRCh38
NC_000007.13:g.44229079del , CM000669.1:g.44229079del
GRCh37
NC_000007.12:g.44195604del
NCBI36
NG_008847.1:g.4946del
NG_008847.2:g.13693del
Transcript Alleles
HGVS
Amino-acid change
ENST00000476008.1:n.480+8213del
Search 100 bp 5'
Search 100 bp 3'