Canonical Allele Identifier: PA2580139058
Gene: ACTA1 HGNC NCBI
ClinVar Allele:
2414518
ClinVar RCV:
RCV003139588
ClinVar Variation:
2438836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091.1:p.His75Asn
CA38816563
NM_001100.4:c.223C>A