ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA293432
Gene: SCO1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004580.1:p.Leu6Val
CA293431
NM_004589.4:c.16C>G