Canonical Allele Identifier: PA916073262
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 657405
ClinVar RCV Id: RCV000813998

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val129Glu
CA406495226
NM_024301.5:c.386T>A