ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103419
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2062118
ClinVar RCV Id:
RCV002923500
RCV003146692
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Glu980Lys
CA4537819
NM_000083.3:c.2938G>A