Canonical Allele Identifier: PA2826133501
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 553698

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Asn228Ser
CA410600619
NM_001178009.3:c.683A>G
CA2579811810
NM_001178009.3:c.683_684delinsGT
CA2579811811
NM_001178009.3:c.682_684delinsTCT