Allele Registry

Canonical Allele Identifier: PA2825328073

Gene: VPS13C HGNC NCBI

ClinVar Allele:

1234109

ClinVar RCV:

RCV001644236

RCV002243351

ClinVar Variation:

1243337

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018098.1:p.Arg974Lys	CA7596551 NM_001018088.3:c.2921G>A