ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092245
Gene: GALK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198048
ClinVar RCV Id:
RCV000179261
RCV000670855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000145.1:p.Thr288Met
CA246538
NM_000154.2:c.863C>T