Canonical Allele Identifier: PA2579795527
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His17Arg
CA410602545
NM_000071.3:c.50A>G
CA2579808872
NM_000071.3:c.50_51delinsGG
CA2579813680
NM_000071.3:c.50_51delinsGT