Canonical Allele Identifier: PA094088
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 555554
ClinVar RCV Id: RCV000671396 RCV001573804 RCV002531280 RCV003323674
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro462Ser
CA9532308
NM_001039885.3:c.1384C>T