Canonical Allele Identifier: PA2825571559
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2416733
ClinVar RCV Id: RCV003108984
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107803.1:p.Ser729Leu
CA7809864
NM_001114331.3:c.2186C>T