ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104448
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Arg258His
CA007026
NM_001141945.2:c.773G>A