ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021054
Gene: AP4B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295241.1:p.Val84Ala
CA1016017
NM_001308312.2:c.251T>C