Canonical Allele Identifier: PA915953296
Gene: CLCN1 HGNC NCBI
ClinVar RCV:
RCV000803654
ClinVar Variation:
648845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asp75Val
CA369680541
NM_000083.3:c.224A>T