ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580102998
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1807088
ClinVar RCV Id:
RCV002475045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ala221Thr
CA369684897
NM_000083.3:c.661G>A