Canonical Allele Identifier: PA2580455988
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1941492
ClinVar RCV Id: RCV002653573

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val450Ala
CA406497188
NM_024301.5:c.1349T>C