ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741809868
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2935193
ClinVar RCV Id:
RCV003790847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Val315Ala
CA369641680
NM_000083.3:c.944T>C