Canonical Allele Identifier: PA2825748219
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 429430
ClinVar RCV Id: RCV000494287 RCV000672486 RCV001085319 RCV001449591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Pro1386Arg
CA1706944
NM_001130976.2:c.4157C>G