ClinGen Allele Registry
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Canonical Allele Identifier:
PA3071348994
Gene: AP3B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003655.3:p.Trp239Ser
CA360190857
NM_003664.5:c.716G>C