Allele Registry

Canonical Allele Identifier: PA2825692717

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000596018

RCV000814681

RCV001829688

RCV002532670

ClinVar Variation:

502553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Asn44Lys	CA1705231 NM_001130455.2:c.132C>A CA347216072 NM_001130455.2:c.132C>G