ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069051
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326968
ClinVar RCV Id:
RCV001788846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Ala859Thr
CA345392215
NM_001278343.2:c.2575G>A