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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:
CA1703653871
Gene: GCK
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.44189477_44189478delinsAG , CM000669.2:g.44189477_44189478delinsAG
GRCh38
NC_000007.13:g.44229076_44229077delinsAG , CM000669.1:g.44229076_44229077delinsAG
GRCh37
NC_000007.12:g.44195601_44195602delinsAG
NCBI36
NG_008847.1:g.4946_4947delinsCT
NG_008847.2:g.13693_13694delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000476008.1:n.480+8213_480+8214delinsCT
Search 100 bp 5'
Search 100 bp 3'