ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073603398
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Gly190Ala
CA4537005
NM_000083.3:c.569G>C