Canonical Allele Identifier: PA2825388716
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1054610
ClinVar RCV Id: RCV001363147

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Phe457Leu
CA406497224
NM_001039885.3:c.1369T>C
CA406497229
NM_001039885.3:c.1371C>A
CA406497230
NM_001039885.3:c.1371C>G