ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827179848
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_001309869.1:p.Ser81Leu
CA145364
NM_001322940.2:c.242C>T