ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058040
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1298493
ClinVar RCV Id:
RCV001726823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.His175Asp
CA377512227
NM_001320855.1:c.523C>G