Canonical Allele Identifier: PA2827070443
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Val209Ala
CA410599956
NM_001321072.1:c.626T>C
CA2579803201
NM_001321072.1:c.626_627delinsCT