ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324001
Gene: SCO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215125
ClinVar RCV Id:
RCV000199457
RCV002478692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004580.1:p.Thr144Ala
CA324000
NM_004589.4:c.430A>G