ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825538946
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
874331
ClinVar RCV Id:
RCV001097192
RCV001243365
RCV003456472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Gly118Ser
CA345373685
NM_001103.4:c.352G>A