ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825307245
Gene: CPZ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014448.2:p.Asp465Asn
CA2854109
NM_001014448.3:c.1393G>A