Canonical Allele Identifier: PA645492238
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 430804
ClinVar RCV Id: RCV001028074 RCV000785974 RCV001526602 RCV001533053 RCV001381390 RCV002527120
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057272.1:p.Gly343Arg
CA368542364
NM_016188.5:c.1027G>C
CA368542366
NM_016188.5:c.1027G>A