ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827058060
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923753
ClinVar RCV Id:
RCV001184676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Lys193Arg
CA377511990
NM_001320855.1:c.578A>G