Canonical Allele Identifier: PA915953587
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252463
ClinVar RCV Id: RCV000239241 RCV000404319 RCV000513813 RCV000660618 RCV001086594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Arg300Gln
CA4537173
NM_000083.3:c.899G>A