ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128490
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18278
ClinVar RCV Id:
RCV000022436
RCV000019940
RCV000523600
RCV002310630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Arg258Cys
CA007017
NM_001613.4:c.772C>T