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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:
PA2830123814
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972776
ClinVar RCV Id:
RCV001248986
RCV001879746
RCV003325991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277043.1:p.Ala377Gly
CA367398802
NM_033508.3:c.1130C>G