Allele Registry

Canonical Allele Identifier: PA2826078326

Gene: CLCN2 HGNC NCBI

ClinVar RCV:

RCV002238609

RCV002487039

ClinVar Variation:

1683303

HGVS (amino-acid)	Matching Registered Transcripts
NP_001164560.1:p.Ser719Leu	CA2733819 NM_001171089.2:c.2156C>T