Canonical Allele Identifier: PA913198304
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 596825
ClinVar RCV Id: RCV000732784

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg254Cys
CA406495956
NM_024301.5:c.760C>T