ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684419
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001064147
RCV003142010
ClinVar Variation:
858299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Glu226Lys
CA345147129
NM_001100.4:c.676G>A