ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953550
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
33899
ClinVar RCV:
RCV000497783
RCV000763168
RCV003227570
ClinVar Variation:
21047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Thr268Met
CA341551
NM_000083.3:c.803C>T