Canonical Allele Identifier: PA2499227904
Gene: CLCN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe484Leu
CA369645393
NM_000083.3:c.1450T>C
CA369645398
NM_000083.3:c.1452C>A
CA369645399
NM_000083.3:c.1452C>G