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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:
PA2827936681
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16144
ClinVar RCV Id:
RCV000017526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341729.1:p.Tyr214Cys
CA257435
NM_001354800.1:c.641A>G