ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825762782
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523223
RCV001829489
RCV002527605
RCV004023559
ClinVar Variation:
450192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg820Trp
CA1706191
NM_001130983.2:c.2458C>T