Canonical Allele Identifier: PA2573285631
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1442593
ClinVar RCV Id: RCV001953079 RCV002407143
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gly282Arg
CA406496125
NM_024301.5:c.844G>A
CA406496127
NM_024301.5:c.844G>C