Allele Registry

Canonical Allele Identifier: PA2825383446

Gene: ATP6V1C2 HGNC NCBI

ClinVar Allele:

2228814

ClinVar RCV:

RCV004095060

ClinVar Variation:

2238085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034451.1:p.Leu353Phe	CA345823599 NM_001039362.2:c.1057C>T