Canonical Allele Identifier: PA1139696292
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Val314Ala
CA410599956
NM_001320298.2:c.941T>C
CA2579803201
NM_001320298.2:c.941_942delinsCT
CA3273293562
NM_001320298.2:c.941_942delinsCC
CA3273293563
NM_001320298.2:c.941_942delinsCA