Canonical Allele Identifier: PA2579796990
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp234Ser
CA2579811521
NM_000071.3:c.700_702delinsTCT
CA2579811522
NM_000071.3:c.700_702delinsAGT
CA2579811523
NM_000071.3:c.700_701delinsTC
CA2579813832
NM_000071.3:c.700_702delinsTCG
CA2579813833
NM_000071.3:c.700_702delinsTCA