ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341562
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000074.2:p.Ala313Thr
NM_000083.2:c.937G>A