Canonical Allele Identifier: PA2825388753
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 290177
ClinVar RCV Id: RCV001082322 RCV002392813 RCV000270749
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro481Ala
CA9532323
NM_001039885.3:c.1441C>G