Canonical Allele Identifier: PA2499244954
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044271
ClinVar RCV Id: RCV001348495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Glu891Asp
CA345392706
NM_001278343.2:c.2673G>C
CA345392707
NM_001278343.2:c.2673G>T