Allele Registry

Canonical Allele Identifier: PA245435

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000178358

RCV000670956

RCV002517730

RCV003468865

ClinVar Variation:

197346

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Pro316Ser	CA245434 NM_024301.5:c.946C>T