ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161100
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1358417
ClinVar RCV Id:
RCV001864078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ala211Val
CA4537018
NM_000083.3:c.632C>T