ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689622
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
851926
ClinVar RCV Id:
RCV001056436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ser85Gly
CA369680787
NM_000083.3:c.253A>G