Allele Registry

Canonical Allele Identifier: PA116727

Gene: FKRP HGNC NCBI

ClinVar Allele:

19273

ClinVar RCV:

RCV000004456

ClinVar Variation:

4234

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Cys318Tyr	CA116726 NM_024301.5:c.953G>A