Canonical Allele Identifier: PA2826132961
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 371147
ClinVar RCV Id: RCV000409189 RCV001584104 RCV002230729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Arg336His
CA16041997
NM_001178008.3:c.1007G>A
CA2579812121
NM_001178008.3:c.1007_1008delinsAT