Canonical Allele Identifier: PA2826601543
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 586983
ClinVar RCV Id: RCV000714293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269092.1:p.Asp416His
CA413186001
NM_001282163.2:c.1246G>C