Allele Registry

Canonical Allele Identifier: PA2825571272

Gene: CLCN7 HGNC NCBI

ClinVar RCV:

RCV000055845

RCV000251178

RCV000338192

RCV001516365

RCV002277138

ClinVar Variation:

65634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107803.1:p.Val394Met	CA344953 NM_001114331.3:c.1180G>A