Canonical Allele Identifier: PA1139763860
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 933974
ClinVar RCV Id: RCV001202297 RCV001751372 RCV002348654 RCV001828625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg190His
CA309099363
NM_024301.5:c.569G>A