ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116435
Gene: GALE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001008217.1:p.Val94Met
NM_001008216.2:c.280G>A