Canonical Allele Identifier: PA2825747130
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282410
ClinVar RCV Id: RCV000292426 RCV000725084 RCV001070518 RCV003469225 RCV003317179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Asp390Asn
CA10604166
NM_001130976.2:c.1168G>A