Canonical Allele Identifier: PA2579795785
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg18Leu
CA410602540
NM_000071.3:c.53G>T
CA2579812768
NM_000071.3:c.52_54delinsTTG
CA2579812769
NM_000071.3:c.53_54delinsTT
CA2579812771
NM_000071.3:c.53_54delinsTG
CA2579813882
NM_000071.3:c.53_54delinsTA