ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828915575
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1481128
ClinVar RCV Id:
RCV002000467
RCV003146444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369638.1:p.Ala253Ser
CA350694898
NM_001382709.1:c.757G>T