ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103375
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2156794
ClinVar RCV Id:
RCV003091007
RCV003332406
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ser886Thr
CA369653550
NM_000083.3:c.2657G>C