Canonical Allele Identifier: PA2826133693
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212864
ClinVar RCV Id: RCV000200072 RCV001835719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Val372Phe
CA324632
NM_001178009.3:c.1114G>T
CA2579803078
NM_001178009.3:c.1114_1116delinsTTT