Allele Registry

Canonical Allele Identifier: PA2829875696

Gene: VPS13C HGNC NCBI

ClinVar Allele:

1234109

ClinVar RCV:

RCV001644236

RCV002243351

ClinVar Variation:

1243337

HGVS (amino-acid)	Matching Registered Transcripts
NP_060550.2:p.Arg931Lys	CA7596551 NM_018080.4:c.2792G>A