ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258015
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.2:p.Pro932Leu
CA258014
NM_000083.2:c.2795C>T