Canonical Allele Identifier: PA116721
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4231
ClinVar RCV Id: RCV000004452 RCV002512756
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg134Trp
CA116720
NM_024301.5:c.400C>T