Canonical Allele Identifier: PA2580196087
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_001295241.1:p.Gln58His
CA341713913
NM_001308312.2:c.174A>C
CA341713915
NM_001308312.2:c.174A>T