Canonical Allele Identifier: PA2579800504
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys398Val
CA2579806154
NM_000071.3:c.1192_1194delinsGTT
CA2579806156
NM_000071.3:c.1192_1193delinsGT
CA2579813549
NM_000071.3:c.1192_1194delinsGTA