ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362742
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408760
ClinVar RCV Id:
RCV000475749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Ala263Thr
CA1016014
NM_001253852.3:c.787G>A