Canonical Allele Identifier: PA2580103218
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169816
ClinVar RCV Id: RCV003085023 RCV003143489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ser576Cys
CA168221722
NM_000083.3:c.1727C>G