Canonical Allele Identifier: PA276130
Gene: CLCN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.2:p.Phe167Leu
CA276129
NM_000083.2:c.501C>G
CA369683698
NM_000083.2:c.499T>C
CA369683720
NM_000083.2:c.501C>A