Canonical Allele Identifier: PA2579791944
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg491Val
CA2579811882
NM_000071.3:c.1471_1473delinsGTA
CA2579811883
NM_000071.3:c.1471_1473delinsGTT
CA2579811886
NM_000071.3:c.1471_1473delinsGTG