ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827180153
Gene: DSE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309870.1:p.Arg467Gln
CA3969739
NM_001322941.2:c.1400G>A