ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573237771
Gene: CLCN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002238609
RCV002487039
ClinVar Variation:
1683303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004357.3:p.Ser719Leu
CA2733819
NM_004366.6:c.2156C>T