ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828527884
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452829
ClinVar RCV Id:
RCV000520971
RCV001853691
RCV004023623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361450.1:p.Arg378Gln
CA3969774
NM_001374521.1:c.1133G>A