ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953584
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531747
ClinVar RCV Id:
RCV000638241
RCV000761298
RCV000991830
RCV002267619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ala298Thr
CA4537170
NM_000083.3:c.892G>A