ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689901
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Val397Asp
CA369643229
NM_000083.3:c.1190T>A