Canonical Allele Identifier: PA1139763921
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 859402
ClinVar RCV Id: RCV001065504 RCV002393317 RCV002479385
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Trp255Arg
CA406495960
NM_024301.5:c.763T>A
CA406495961
NM_024301.5:c.763T>C