ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953652
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489990
ClinVar Variation:
427153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Val366Ala
CA369642146
NM_000083.3:c.1097T>C