Canonical Allele Identifier: PA658829642
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 550064
ClinVar RCV Id: RCV000664689 RCV002530634
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Phe473Cys
CA9532317
NM_024301.5:c.1418T>G