Allele Registry

Canonical Allele Identifier: PA916073427

Gene: FKRP HGNC NCBI

ClinVar Allele:

788929

ClinVar RCV:

RCV000985158

ClinVar Variation:

800947

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Ala455Val	CA9532303 NM_024301.5:c.1364C>T