ClinGen Allele Registry
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Canonical Allele Identifier:
PA645497869
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000217198
RCV000725598
RCV001079455
RCV002321829
ClinVar Variation:
227281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ala135Val
CA2125063
NM_001927.4:c.404C>T