Allele Registry

Canonical Allele Identifier: PA133787

Gene: ATP6V1B1 HGNC NCBI

ClinVar RCV:

RCV000037208

RCV000299123

RCV000991559

ClinVar Variation:

44229

HGVS (amino-acid)	Matching Registered Transcripts
NP_001683.2:p.Glu161Lys	CA133786 NM_001692.4:c.481G>A