ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828528048
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
88848
ClinVar RCV Id:
RCV000074436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361451.1:p.Ser268Leu
CA145364
NM_001374522.1:c.803C>T