ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362951
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520727
ClinVar RCV Id:
RCV000623523
RCV001849410
RCV002531883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240782.1:p.Arg107Gln
CA1016061
NM_001253853.3:c.320G>A