Canonical Allele Identifier: PA2579794499
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly115Arg
CA410601904
NM_000071.3:c.343G>C
CA2579810115
NM_000071.3:c.343_345delinsAGA
CA2579810116
NM_000071.3:c.343_345delinsCGT