Canonical Allele Identifier: PA092158
Gene: GALK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5633
ClinVar RCV Id: RCV000005987 RCV001824561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000145.1:p.Ala198Val
CA117661
NM_000154.2:c.593C>T