ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752698
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500922
ClinVar RCV Id:
RCV000591033
RCV002491213
RCV003574784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Cys1361Arg
CA1706900
NM_001130978.2:c.4081T>C