Canonical Allele Identifier: PA2827070502
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_001308001.1:p.Arg231His
CA16041997
NM_001321072.1:c.692G>A
CA2579812121
NM_001321072.1:c.692_693delinsAT