ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825253119
Gene: EXOSC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31689
ClinVar RCV Id:
RCV000024367
RCV003234918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002269.1:p.Ala139Pro
CA260045
NM_001002269.2:c.415G>C