Canonical Allele Identifier: PA2573285606
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1376386
ClinVar RCV Id: RCV001885858

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro247Thr
CA406495918
NM_024301.5:c.739C>A