ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689659
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946402
ClinVar RCV Id:
RCV001217264
RCV003145402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ala176Asp
CA4536976
NM_000083.3:c.527C>A