ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741957086
Gene: DESI2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2717557
ClinVar RCV:
RCV004330279
ClinVar Variation:
2562715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057160.2:p.Arg190Cys
CA1486041
NM_016076.5:c.568C>T