Canonical Allele Identifier: PA2580455807
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2441450
ClinVar RCV Id: RCV003143991

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg320Cys
CA406496362
NM_024301.5:c.958C>T