ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756607
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450192
ClinVar RCV Id:
RCV000523223
RCV001829489
RCV002527605
RCV004023559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg836Trp
CA1706191
NM_001130980.2:c.2506C>T