ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498809
Gene: AP3B2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004635.2:p.Arg67Ter
NM_004644.5:c.199C>T