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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:
PA2830123612
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36260
ClinVar RCV Id:
RCV000029923
RCV000992065
RCV002463613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277043.1:p.Asp277Val
CA213856
NM_033508.3:c.830A>T