Allele Registry

Canonical Allele Identifier: PA2573285468

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001976072

ClinVar Variation:

1475218

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Val79Leu	CA406494934 NM_024301.5:c.235G>C CA406494935 NM_024301.5:c.235G>T