ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953618
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21051
ClinVar RCV Id:
RCV000516849
RCV002514123
RCV001823101
RCV000020119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Thr310Met
CA341559
NM_000083.3:c.929C>T