Canonical Allele Identifier: PA2827070292
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 198988
ClinVar RCV Id: RCV000180461 RCV000200469 RCV001251422 RCV002228800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr157Met
CA275440
NM_001321072.1:c.470C>T