Canonical Allele Identifier: PA2579793694
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu77Ser
CA410602166
NM_000071.3:c.230T>C
CA2579806889
NM_000071.3:c.230_231delinsCT
CA2579806890
NM_000071.3:c.230_231delinsCC
CA2579813562
NM_000071.3:c.229_231delinsAGT