ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825757601
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242527
ClinVar RCV Id:
RCV000648020
RCV000672247
RCV003469178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg1710Gln
CA351294
NM_001130980.2:c.5129G>A