Canonical Allele Identifier: PA915953414
Gene: CLCN1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gln160His
CA4536967
NM_000083.3:c.480G>C
CA369683567
NM_000083.3:c.480G>T