Canonical Allele Identifier: PA2829467852
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 429430
ClinVar RCV Id: RCV000494287 RCV000672486 RCV001085319 RCV001449591
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Pro1400Arg
CA1706944
NM_003494.4:c.4199C>G