ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA137824
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46182
ClinVar RCV Id:
RCV000039425
RCV000244558
RCV000229598
RCV000766860
RCV001175843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Arg833His
CA022752
NM_004949.5:c.2498G>A