Canonical Allele Identifier: PA2825539841
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 876267
ClinVar RCV Id: RCV001100854 RCV001593268 RCV002393355 RCV002558014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Gln498His
CA345384170
NM_001103.4:c.1494G>C
CA345384171
NM_001103.4:c.1494G>T