Canonical Allele Identifier: PA2579795154
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys15Leu
CA2579810994
NM_000071.3:c.43_44delinsCT
CA2579810995
NM_000071.3:c.44_45delinsTG
CA2579810996
NM_000071.3:c.44_45delinsTA