Canonical Allele Identifier: PA2573181832
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365247
ClinVar RCV Id: RCV001907885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Arg476His
CA10413877
NM_001127899.4:c.1427G>A