ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217062
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056796
RCV001232668
RCV002504955
RCV004018986
ClinVar Variation:
66408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Glu108Lys
CA217060
NM_001927.4:c.322G>A