Allele Registry

Canonical Allele Identifier: PA2826362983

Gene: AP4B1 HGNC NCBI

ClinVar RCV:

RCV000649279

RCV002311984

ClinVar Variation:

539528

HGVS (amino-acid)	Matching Registered Transcripts
NP_001240782.1:p.Val201Leu	CA1015986 NM_001253853.3:c.601G>T CA341713165 NM_001253853.3:c.601G>C