Canonical Allele Identifier: PA1139764245
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 936918
ClinVar RCV Id: RCV001205826 RCV001574262 RCV001833808 RCV002497700 RCV002393463
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gly476Glu
CA9532319
NM_024301.5:c.1427G>A