Canonical Allele Identifier: PA2827070922
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 989622
ClinVar RCV Id: RCV001277489 RCV002241655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr388Met
CA321686674
NM_001321072.1:c.1163C>T