Canonical Allele Identifier: PA2825751292
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284816
ClinVar RCV Id: RCV000284030 RCV000302392 RCV000340889 RCV000544371 RCV001283516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Val68Leu
CA1705253
NM_001130978.2:c.202G>C
CA347216455
NM_001130978.2:c.202G>T