Canonical Allele Identifier: PA2825051691
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3145393
ClinVar RCV Id: RCV004444234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Pro938Leu
CA4537790
NM_000083.3:c.2813C>T