Canonical Allele Identifier: PA2825768491
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284822
ClinVar RCV Id: RCV000262181 RCV000648008 RCV001276869
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Asp1937Glu
CA1707524
NM_001130985.2:c.5811T>G
CA347225417
NM_001130985.2:c.5811T>A