Canonical Allele Identifier: PA2499289969
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1173108
ClinVar RCV Id: RCV001527407

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gln377Arg
CA406496717
NM_024301.5:c.1130A>G