ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314297
Gene: CSTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000091.1:p.Ser72Pro
CA314295
NM_000100.4:c.214T>C