Allele Registry

Canonical Allele Identifier: PA2829468963

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000317613

RCV000754725

RCV002521880

ClinVar Variation:

282408

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Tyr1877His	CA1707485 NM_003494.4:c.5629T>C