ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133875
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44270
ClinVar RCV Id:
RCV000037252
RCV000711441
RCV001081604
RCV002408512
RCV003486561
RCV003944906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Glu262Val
CA133873
NM_001927.4:c.785A>T