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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:
PA2827937090
Gene: GCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418228
ClinVar RCV Id:
RCV000479890
RCV002431386
RCV003493592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341730.1:p.Asp26Asn
CA16618466
NM_001354801.1:c.76G>A