Canonical Allele Identifier: PA916024366
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro49Leu
CA325105
NM_001320298.2:c.146C>T
CA2579804888
NM_001320298.2:c.145_146delinsTT
CA3273301299
NM_001320298.2:c.146_147delinsTC
CA3273301315
NM_001320298.2:c.146_147delinsTT
CA3273301316
NM_001320298.2:c.145_147delinsTTA
CA3273301317
NM_001320298.2:c.146_147delinsTA