Canonical Allele Identifier: PA349821
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220727
ClinVar RCV Id: RCV000210525 RCV000224577 RCV000435246 RCV001847940 RCV002311321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006585.2:p.Ile575Val
CA349820
NM_006594.5:c.1723A>G