Canonical Allele Identifier: PA658802394
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 520509
ClinVar RCV Id: RCV000624437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Cys483Ser
CA345383893
NM_001103.4:c.1447T>A
CA345383906
NM_001103.4:c.1448G>C