ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104400
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019938
RCV000246692
RCV000505736
RCV000581791
ClinVar Variation:
18276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Arg149Cys
CA006936
NM_001141945.2:c.445C>T