ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058035
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
971498
ClinVar RCV Id:
RCV001247292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Tyr171Cys
CA377512262
NM_001320855.1:c.512A>G