Canonical Allele Identifier: PA2579796470
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg209Leu
CA410600875
NM_000071.3:c.626G>T
CA2579812698
NM_000071.3:c.625_626delinsTT
CA2579812700
NM_000071.3:c.626_627delinsTA
CA2579812701
NM_000071.3:c.626_627delinsTT