ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA054861
Gene: CLC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208912
ClinVar RCV Id:
RCV000201352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001819.2:p.Ile130Ser
CA054734
NM_001828.6:c.389T>G