Canonical Allele Identifier: PA915953303
Gene: CLCN1 HGNC NCBI
ClinVar RCV:
RCV000638239
ClinVar Variation:
531745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asp89Gly
CA168253208
NM_000083.3:c.266A>G