ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463724
Gene: ACTA2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001604.1:p.Arg198His
NM_001613.4:c.593G>A