Canonical Allele Identifier: PA2825662516
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 429927
ClinVar RCV Id: RCV000494019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121370.1:p.Thr599Ile
CA413188875
NM_001127898.4:c.1796C>T