ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916039379
Gene: GCK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117127
RCV003325949
RCV003556165
ClinVar Variation:
129140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341732.1:p.Cys49Phe
CA152950
NM_001354803.2:c.146G>T