Canonical Allele Identifier: PA2826133267
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212872
ClinVar RCV Id: RCV000200523 RCV000410155 RCV002310761 RCV002229028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Pro49Leu
CA325105
NM_001178009.3:c.146C>T
CA2579804888
NM_001178009.3:c.145_146delinsTT