Canonical Allele Identifier: PA2825571048
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2056502
ClinVar RCV Id: RCV002938592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107803.1:p.Phe119Leu
CA7810794
NM_001114331.3:c.357C>G
CA394192512
NM_001114331.3:c.357C>A
CA394192521
NM_001114331.3:c.355T>C