Canonical Allele Identifier: PA645453552
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 284689
ClinVar RCV Id: RCV000320524 RCV002518945
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Leu268Arg
CA10604872
NM_024301.5:c.803T>G