ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825770547
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
270388
ClinVar RCV:
RCV000294536
RCV000725796
RCV000817667
RCV003114448
RCV003469237
ClinVar Variation:
286151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Arg1755Trp
CA1707356
NM_001130986.2:c.5263C>T