Allele Registry

Canonical Allele Identifier: PA2825756019

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000598072

RCV000792953

RCV001535517

RCV003403397

ClinVar Variation:

500004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Pro264Leu	CA1705463 NM_001130980.2:c.791C>T