Canonical Allele Identifier: PA2826132555
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212870
ClinVar RCV Id: RCV000197426 RCV000648122 RCV002515348
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.His22Arg
CA321891
NM_001178008.3:c.65A>G
CA2579808785
NM_001178008.3:c.65_66delinsGT
CA2579808786
NM_001178008.3:c.65_66delinsGA
CA2579808788
NM_001178008.3:c.64_66delinsAGG
CA2579808789
NM_001178008.3:c.65_66delinsGG