ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264774
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Arg39Cys
CA006817
NM_001613.4:c.115C>T