ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060397
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Leu629Pro
CA168224806
NM_000083.3:c.1886T>C