ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829334130
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Ile291Asn
CA377510898
NM_001613.4:c.872T>A