ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104439
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001135417.1:p.Arg258Cys
NM_001141945.2:c.772C>T