ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161128
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Glu417Gly
CA369643625
NM_000083.3:c.1250A>G