Canonical Allele Identifier: PA2580455514
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2194417
ClinVar RCV Id: RCV002647414
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg116His
CA406495146
NM_024301.5:c.347G>A