Canonical Allele Identifier: PA2829671070
Gene: AP4B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048203
ClinVar RCV Id: RCV002918622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006585.2:p.Gln226His
CA341713913
NM_006594.5:c.678A>C
CA341713915
NM_006594.5:c.678A>T