ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026717
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452829
ClinVar RCV Id:
RCV000520971
RCV001853691
RCV004023623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309868.1:p.Arg742Gln
CA3969774
NM_001322939.2:c.2225G>A