Canonical Allele Identifier: PA1139689870
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957128
ClinVar RCV Id: RCV001230055 RCV001780164
ClinVar Variation Id: 1709983
ClinVar RCV Id: RCV002290325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe306Leu
CA369641617
NM_000083.3:c.916T>C
CA369641622
NM_000083.3:c.918C>A
CA369641623
NM_000083.3:c.918C>G