Canonical Allele Identifier: PA658829645
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 555862
ClinVar RCV Id: RCV000671771 RCV000996950 RCV001222193
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Leu489Arg
CA406497424
NM_024301.5:c.1466T>G