ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754613
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286743
ClinVar RCV Id:
RCV000361984
RCV000693473
RCV000665677
RCV003401254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Arg1072Cys
CA1706454
NM_001130979.2:c.3214C>T