ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259762
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1212419
ClinVar RCV Id:
RCV001585010
RCV003120638
RCV003161137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ile367Val
CA2125240
NM_001927.4:c.1099A>G