ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741809816
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2943938
ClinVar RCV Id:
RCV003803496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Gly188Ser
CA369684106
NM_000083.3:c.562G>A