Canonical Allele Identifier: PA2573200748
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1516009
ClinVar RCV Id: RCV002048663
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Phe99Ser
CA410602019
NM_001320298.2:c.296T>C
CA2579805987
NM_001320298.2:c.296_297delinsCT
CA2579805989
NM_001320298.2:c.295_297delinsAGT
CA2579813535
NM_001320298.2:c.296_297delinsCG