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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:
PA2579976325
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2567920
ClinVar RCV Id:
RCV003283408
RCV004527455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000153.1:p.Pro153His
CA367401917
NM_000162.5:c.458C>A