ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829468654
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500090
ClinVar RCV Id:
RCV000665182
RCV000711567
RCV002531059
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1749Cys
CA1707345
NM_003494.4:c.5245C>T