ClinGen Allele Registry
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Canonical Allele Identifier:
PA3080622440
Gene: CPB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001863.3:p.Ile347Asn
CA388125881
NM_001872.5:c.1040T>A