Canonical Allele Identifier: PA2499228484
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 1005500
ClinVar RCV Id: RCV001302382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000091.1:p.Lys78Gln
CA410407839
NM_000100.4:c.232A>C