Canonical Allele Identifier: PA915953724
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208083
ClinVar RCV Id: RCV000193137 RCV000518351 RCV000701519 RCV003313944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe428Ser
CA347374
NM_000083.3:c.1283T>C