ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110729
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000361984
RCV000665677
RCV000693473
RCV003401254
ClinVar Variation:
286743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1041Cys
CA1706454
NM_003494.4:c.3121C>T