Canonical Allele Identifier: PA2573060389
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305539
ClinVar RCV Id: RCV001768746 RCV002543994
ClinVar Variation Id: 1397806
ClinVar RCV Id: RCV001922414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr166Ser
CA4536969
NM_000083.3:c.497C>G
CA369683678
NM_000083.3:c.496A>T