Canonical Allele Identifier: PA2827070416
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly202Ser
CA113874
NM_001321072.1:c.604G>A
CA2579809371
NM_001321072.1:c.604_606delinsAGT
CA3273294473
NM_001321072.1:c.604_606delinsTCA
CA3273294475
NM_001321072.1:c.604_606delinsTCG
CA3273294476
NM_001321072.1:c.604_606delinsTCT
CA3273294496
NM_001321072.1:c.604_605delinsTC