ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916925
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001977351
ClinVar Variation:
1473035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369641.1:p.Ala337Ser
CA350693316
NM_001382712.1:c.1009G>T