ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827180144
Gene: DSE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000522074
RCV001490971
ClinVar Variation:
450138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309870.1:p.Val446Met
CA3969726
NM_001322941.2:c.1336G>A