Canonical Allele Identifier: PA116723
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4232
ClinVar RCV Id: RCV000004453 RCV000732974 RCV000814162 RCV001813735 RCV002371759 RCV002482826 RCV003155013 RCV003466810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val300Ala
CA116722
NM_024301.5:c.899T>C