Canonical Allele Identifier: PA2825388683
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1019247
ClinVar RCV Id: RCV001318663 RCV001830319
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg436Gln
CA9532293
NM_001039885.3:c.1307G>A