Canonical Allele Identifier: PA916073380
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 665178
ClinVar RCV Id: RCV000823403 RCV001830821 RCV002381877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Glu324Asp
CA406496386
NM_024301.5:c.972G>C
CA406496387
NM_024301.5:c.972G>T