Canonical Allele Identifier: PA2579793528
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala69Val
CA410602224
NM_000071.3:c.206C>T
CA2579812256
NM_000071.3:c.206_207delinsTG
CA2579812257
NM_000071.3:c.206_207delinsTA
CA2579812258
NM_000071.3:c.206_207delinsTT