Canonical Allele Identifier: PA2827070525
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Cys241Arg
CA410599740
NM_001321072.1:c.721T>C
CA2579811424
NM_001321072.1:c.721_723delinsCGG
CA2579811425
NM_001321072.1:c.721_723delinsCGT
CA2579811427
NM_001321072.1:c.721_723delinsAGG