Canonical Allele Identifier: PA2579801151
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr428Ser
CA410397231
NM_000071.3:c.1283C>G
CA410397234
NM_000071.3:c.1282A>T
CA2579804251
NM_000071.3:c.1282_1284delinsTCA
CA2579804252
NM_000071.3:c.1282_1284delinsTCT
CA2579804253
NM_000071.3:c.1283_1284delinsGT
CA2579804255
NM_000071.3:c.1282_1284delinsTCG