ClinGen Allele Registry
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Canonical Allele Identifier:
PA110788
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000080241
RCV000984167
RCV001384924
RCV003460749
RCV004549502
ClinVar Variation:
94278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg555Trp
CA222133
NM_003494.4:c.1663C>T