ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110750
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242527
ClinVar RCV Id:
RCV000648020
RCV000672247
RCV003469178
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1693Gln
CA351294
NM_003494.4:c.5078G>A