ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953550
Gene: CLCN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000074.3:p.Thr268Met
NM_000083.3:c.803C>T