Allele Registry

Canonical Allele Identifier: PA116715

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004449

RCV003591622

ClinVar Variation:

4228

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Arg54Trp	CA116714 NM_024301.5:c.160C>T CA2844624990 NM_024301.5:c.159_160delinsTT