ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128487
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019939
RCV000022435
RCV000181027
RCV003352750
ClinVar Variation:
18277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Arg258His
CA007026
NM_001613.4:c.773G>A