Canonical Allele Identifier: PA2826132929
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 117
ClinVar RCV Id: RCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV002313701 RCV003914786
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly307Ser
CA113874
NM_001178008.3:c.919G>A
CA2579809371
NM_001178008.3:c.919_921delinsAGT