Canonical Allele Identifier: PA2825767924
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_001124457.1:p.Pro1418Arg
CA1706944
NM_001130985.2:c.4253C>G