Canonical Allele Identifier: PA152822
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 129058
ClinVar RCV Id: RCV000117039 RCV000711666 RCV001086481 RCV001836732 RCV002426662
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ile274Met
CA152821
NM_024301.5:c.822C>G