ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689992
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953331
ClinVar RCV Id:
RCV001225606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ser576Ala
CA369646643
NM_000083.3:c.1726T>G