Canonical Allele Identifier: PA2827070290
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr157Arg
CA410600299
NM_001321072.1:c.470C>G
CA2579804154
NM_001321072.1:c.470_471delinsGA
CA2579804155
NM_001321072.1:c.469_470delinsCG
CA2579804156
NM_001321072.1:c.469_471delinsCGT