ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354054
Gene: AP3B1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003655.3:p.Ser901Cys
NM_003664.5:c.2702C>G