Canonical Allele Identifier: PA2579798018
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro282Arg
CA410600157
NM_000071.3:c.845C>G
CA2579805476
NM_000071.3:c.845_846delinsGG
CA2579813495
NM_000071.3:c.845_846delinsGT