ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362976
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434226
ClinVar RCV Id:
RCV000501595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240782.1:p.Pro181Ser
CA1015999
NM_001253853.3:c.541C>T