ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237693
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001317632
ClinVar Variation:
1018348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Ala172Val
CA345148520
NM_001100.4:c.515C>T