ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825834407
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
900535
ClinVar RCV:
RCV001164780
ClinVar Variation:
911956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Arg179Ser
CA377512168
NM_001141945.2:c.535C>A