ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828917312
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001977351
ClinVar Variation:
1473035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369642.1:p.Ala247Ser
CA350693316
NM_001382713.1:c.739G>T