ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827179745
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000074436
ClinVar Variation:
88848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309868.1:p.Ser287Leu
CA145364
NM_001322939.2:c.860C>T