Canonical Allele Identifier: PA2580184755
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785232
ClinVar RCV Id: RCV002421981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Asn687Lys
CA345387575
NM_001278343.2:c.2061C>A
CA345387576
NM_001278343.2:c.2061C>G