ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241277
Gene: CSTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000091.1:p.Val41Met
CA241275
NM_000100.4:c.121G>A