ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825253081
Gene: EXOSC3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000117005
RCV000825519
RCV001200535
ClinVar Variation:
129024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002269.1:p.Val80Phe
CA345539
NM_001002269.2:c.238G>T