Canonical Allele Identifier: PA645505103
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423735
ClinVar RCV Id: RCV000482951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Ala847Thr
CA16617092
NM_001103.4:c.2539G>A