Canonical Allele Identifier: PA915953621
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17542
ClinVar RCV Id: RCV000516960 RCV000626585 RCV000763169 RCV000019094 RCV000020121 RCV000019095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Arg317Gln
CA258024
NM_000083.3:c.950G>A