Canonical Allele Identifier: PA2826133348
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1732354
ClinVar RCV Id: RCV002459400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Val118Leu
CA410601886
NM_001178009.3:c.352G>T
CA410601887
NM_001178009.3:c.352G>C
CA2579803336
NM_001178009.3:c.352_354delinsCTT
CA2579803341
NM_001178009.3:c.352_354delinsTTA