Canonical Allele Identifier: PA916008452
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 157724
ClinVar RCV Id: RCV000145022 RCV001797056 RCV001849319 RCV002514784
ClinVar Variation Id: 539526
ClinVar RCV Id: RCV000649276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001240782.1:p.Val94Ile
CA345963
NM_001253853.3:c.280G>A
CA658795505
NM_001253853.3:c.279_280delinsTA