ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104389
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000181019
RCV000234479
RCV000608387
RCV002485186
ClinVar Variation:
199670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Arg118Gln
CA006909
NM_001141945.2:c.353G>A