Canonical Allele Identifier: PA658670646
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 487485
ClinVar RCV Id: RCV000576484

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ser346Pro
CA406496519
NM_024301.5:c.1036T>C