Canonical Allele Identifier: PA2579798382
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr299Arg
CA410600052
NM_000071.3:c.896C>G
CA2579804097
NM_000071.3:c.895_897delinsCGT
CA2579804098
NM_000071.3:c.896_897delinsGG
CA2579804099
NM_000071.3:c.895_897delinsCGG