Canonical Allele Identifier: PA916073311
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 652814
ClinVar RCV Id: RCV000808458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Leu214Val
CA406495718
NM_024301.5:c.640C>G