ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825760222
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285133
ClinVar RCV Id:
RCV000304230
RCV000811495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Arg2057Lys
CA10605008
NM_001130981.2:c.6170G>A