Allele Registry

Canonical Allele Identifier: PA2830283202

Gene: ATP6V1C2 HGNC NCBI

ClinVar Allele:

2228814

ClinVar RCV:

RCV004095060

ClinVar Variation:

2238085

HGVS (amino-acid)	Matching Registered Transcripts
NP_653184.2:p.Leu307Phe	CA345823599 NM_144583.4:c.919C>T