Canonical Allele Identifier: PA2579798556
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly307Arg
CA410600004
NM_000071.3:c.919G>C
CA2579809406
NM_000071.3:c.919_921delinsCGT
CA2579809408
NM_000071.3:c.919_921delinsCGG
CA2579809409
NM_000071.3:c.919_921delinsAGG
CA2579813690
NM_000071.3:c.919_921delinsAGA