ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677933
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.2:p.Glu955Val
CA4537805
NM_000083.2:c.2864A>T