Canonical Allele Identifier: PA2741809931
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926032
ClinVar RCV Id: RCV003786318

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val536Ala
CA369646388
NM_000083.3:c.1607T>C