Allele Registry

Canonical Allele Identifier: PA116709

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004446

RCV003460428

ClinVar Variation:

4225

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Ser221Arg	CA116708 NM_024301.5:c.663C>A CA406495756 NM_024301.5:c.661A>C CA406495761 NM_024301.5:c.663C>G