Canonical Allele Identifier: PA2499289976
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1025316
ClinVar RCV Id: RCV001325619 RCV001831007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gly493Arg
CA9532329
NM_024301.5:c.1477G>A
CA406497443
NM_024301.5:c.1477G>C