Allele Registry

Canonical Allele Identifier: PA2825571167

Gene: CLCN7 HGNC NCBI

ClinVar RCV:

RCV000505540

RCV001266783

RCV001814174

RCV001857236

RCV002279283

RCV003900059

RCV003988848

ClinVar Variation:

438670

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107803.1:p.Arg262Gln	CA7810545 NM_001114331.3:c.785G>A