Canonical Allele Identifier: PA2827070260
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Leu146Pro
CA410600363
NM_001321072.1:c.437T>C
CA2579807628
NM_001321072.1:c.437_438delinsCT