Allele Registry

Canonical Allele Identifier: PA645453688

Gene: FKRP HGNC NCBI

ClinVar Allele:

275408

ClinVar RCV:

RCV000285599

RCV001079454

RCV002348030

RCV004537622

ClinVar Variation:

291171

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Ser385Leu	CA9532258 NM_024301.5:c.1154C>T