ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497811
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228547
ClinVar RCV Id:
RCV000217696
RCV000651544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Asn116Ile
CA10576588
NM_001927.4:c.347A>T