ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825834270
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
408017
ClinVar RCV:
RCV000480516
ClinVar Variation:
417997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Gly76Ser
CA16619078
NM_001141945.2:c.226G>A