ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826077676
Gene: CLCN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1675202
ClinVar RCV:
RCV002238609
RCV002487039
ClinVar Variation:
1683303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164559.1:p.Ser675Leu
CA2733819
NM_001171088.2:c.2024C>T