ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826933382
Gene: AP4B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295241.1:p.Glu414Lys
CA1015727
NM_001308312.2:c.1240G>A