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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:
PA916039372
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
585916
ClinVar RCV Id:
RCV000711767
RCV002469275
RCV003446380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341731.1:p.Val75Glu
CA4239373
NM_001354802.1:c.224T>A