Canonical Allele Identifier: PA2579794647
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile122Thr
CA410601859
NM_000071.3:c.365T>C
CA2579808613
NM_000071.3:c.365_366delinsCT
CA2579813667
NM_000071.3:c.365_366delinsCA