ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828915187
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16832
ClinVar RCV Id:
RCV000056771
RCV001316353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369637.1:p.Asn365del
CA217012
NM_001382708.1:c.1094_1096del