Allele Registry

Canonical Allele Identifier: PA344954

Gene: CLCN7 HGNC NCBI

ClinVar RCV:

RCV000055845

RCV000251178

RCV000338192

RCV001516365

RCV002277138

ClinVar Variation:

65634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278.1:p.Val418Met	CA344953 NM_001287.6:c.1252G>A