Canonical Allele Identifier: PA2826605022
Gene: AP3B2 HGNC NCBI
ClinVar RCV:
RCV001982650
ClinVar Variation:
1444913
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265441.1:p.Asp1049Asn
CA7699689
NM_001278512.2:c.3145G>A