Allele Registry

Canonical Allele Identifier: PA2825388095

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001976072

ClinVar Variation:

1475218

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Val79Leu	CA406494934 NM_001039885.3:c.235G>C CA406494935 NM_001039885.3:c.235G>T