Canonical Allele Identifier: PA2825051923
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051620
ClinVar RCV Id: RCV001359686 RCV003246935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000075.1:p.Arg338Cys
CA10413848
NM_000084.5:c.1012C>T