Canonical Allele Identifier: PA2580455517
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2171710
ClinVar RCV Id: RCV003087056

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro117Leu
CA406495153
NM_024301.5:c.350C>T