Canonical Allele Identifier: PA2741809990
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2940300
ClinVar RCV Id: RCV003797658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asp979Glu
CA369654269
NM_000083.3:c.2937C>A
CA369654270
NM_000083.3:c.2937C>G