ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768087
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285741
ClinVar RCV Id:
RCV000306735
RCV000338437
RCV001055238
RCV000406757
RCV001833354
RCV002519192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Pro1573Ser
CA1707143
NM_001130985.2:c.4717C>T