Canonical Allele Identifier: PA2579801622
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp450Val
CA410396900
NM_000071.3:c.1349A>T
CA2579811675
NM_000071.3:c.1349_1350delinsTC
CA2579811676
NM_000071.3:c.1349_1350delinsTG
CA2579811677
NM_000071.3:c.1349_1350delinsTA