ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092256
Gene: GALK1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000145.1:p.Val32Met
NM_000154.2:c.94G>A