ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058161
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Leu295Ile
CA377510869
NM_001320855.1:c.883C>A