Canonical Allele Identifier: PA1139680288
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 946618
ClinVar RCV Id: RCV001217517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Arg476Cys
CA10413876
NM_001127899.4:c.1426C>T