ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021049
Gene: AP4B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295241.1:p.Ala48Asp
CA1016036
NM_001308312.2:c.143C>A