ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418242
Gene: GALK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325232
ClinVar RCV Id:
RCV000374236
RCV003910242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000145.1:p.Ala249Val
CA8770841
NM_000154.2:c.746C>T