Canonical Allele Identifier: PA2499289953
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1045410
ClinVar RCV Id: RCV001349818

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gly230Ser
CA9532191
NM_024301.5:c.688G>A