ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362820
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1480026
ClinVar RCV Id:
RCV001991146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Ala453Ser
CA341710434
NM_001253852.3:c.1357G>T