Canonical Allele Identifier: PA916024749
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188948
ClinVar RCV Id: RCV000169322 RCV001192720 RCV002228611 RCV002453568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg16His
CA274172
NM_001321072.1:c.47G>A
CA2579812221
NM_001321072.1:c.47_48delinsAT