ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321054
Gene: SCO2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001162580.1:p.Arg95Cys
NM_001169109.2:c.283C>T