ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826667023
Gene: EXOSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446203
ClinVar RCV Id:
RCV000515462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269637.1:p.Gly172Asp
CA375247996
NM_001282708.1:c.515G>A