ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825694119
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284254
ClinVar RCV Id:
RCV000262612
RCV000725415
RCV000763505
RCV000791498
RCV003401245
RCV003469231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Arg960Trp
CA1706331
NM_001130455.2:c.2878C>T