ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3080679274
Gene: EXOSC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852480.1:p.Ala2Glu
CA387867304
NM_181503.3:c.5C>A