ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA284678
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056785
RCV001854165
RCV002483084
RCV003162434
ClinVar Variation:
66399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Thr445Ala
CA284676
NM_001927.4:c.1333A>G