ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826362874
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220727
ClinVar RCV Id:
RCV000210525
RCV000224577
RCV000435246
RCV001847940
RCV002311321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240781.1:p.Ile575Val
CA349820
NM_001253852.3:c.1723A>G