ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827179223
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392192
ClinVar RCV Id:
RCV000436673
RCV002522675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309866.1:p.Arg335His
CA3969607
NM_001322937.2:c.1004G>A