Canonical Allele Identifier: PA2579795700
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met173Ser
CA2579805779
NM_000071.3:c.517_518delinsTC
CA2579805780
NM_000071.3:c.517_519delinsTCT
CA2579805781
NM_000071.3:c.518_519delinsGT