ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687866
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954846
ClinVar RCV Id:
RCV001227374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Ala648Gly
CA345387011
NM_001278343.2:c.1943C>G