Canonical Allele Identifier: PA2829467220
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 652065
ClinVar RCV Id: RCV000807552 RCV001825604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Pro1019Leu
CA1706429
NM_003494.4:c.3056C>T