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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:
PA645459509
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419624
ClinVar RCV Id:
RCV000481874
RCV000754817
RCV003325956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277042.1:p.Val63Met
CA16618472
NM_033507.3:c.187G>A