Allele Registry

Canonical Allele Identifier: PA116713

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004448

RCV003466809

ClinVar Variation:

4227

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Val405Leu	CA116712 NM_024301.5:c.1213G>T CA406496883 NM_024301.5:c.1213G>C