ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314281
Gene: CSTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205323
ClinVar RCV Id:
RCV000187275
RCV000700615
RCV001142989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000091.1:p.Val65Ile
CA314279
NM_000100.4:c.193G>A