ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826362672
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362639
ClinVar RCV Id:
RCV001934515
RCV003247067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Met100Val
CA1016144
NM_001253852.3:c.298A>G