Canonical Allele Identifier: PA2579801235
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly432Val
CA410397166
NM_000071.3:c.1295G>T
CA2579809246
NM_000071.3:c.1295_1296delinsTA
CA2579809247
NM_000071.3:c.1295_1296delinsTT
CA2579809596
NM_000071.3:c.1295_1296delinsTC