Canonical Allele Identifier: PA1139764248
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 972230
ClinVar RCV Id: RCV001248210 RCV001830033
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val477Ile
CA406497346
NM_024301.5:c.1429G>A