ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825769688
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196175
ClinVar RCV Id:
RCV000176934
RCV000724183
RCV001050002
RCV001804906
RCV003468860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Tyr1001Cys
CA275155
NM_001130986.2:c.3002A>G