ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825538929
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2942871
ClinVar RCV Id:
RCV003808037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Lys110Ile
CA345373639
NM_001103.4:c.329A>T