ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830338890
Gene: CD46
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722548.1:p.Ala338Val
CA1371869
NM_153826.4:c.1013C>T