ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058011
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181021
RCV003633484
ClinVar Variation:
199671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Arg149Leu
CA006944
NM_001320855.1:c.446G>T