Canonical Allele Identifier: PA2579801163
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr428Pro
CA410397239
NM_000071.3:c.1282A>C
CA2579804254
NM_000071.3:c.1282_1284delinsCCT
CA2579804256
NM_000071.3:c.1282_1284delinsCCA