Canonical Allele Identifier: PA915953908
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359124
ClinVar RCV Id: RCV000368010 RCV000711230 RCV000700433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala849Thr
CA4537729
NM_000083.3:c.2545G>A