ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483524
Gene: CD46
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002380.3:p.Ala353Val
NM_002389.4:c.1058C>T