ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324067
Gene: SCO2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005129.2:p.Leu236Pro
NM_005138.3:c.707T>C