ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916010077
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429420
ClinVar RCV Id:
RCV000494557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Gly118Cys
CA345373687
NM_001278343.2:c.352G>T