Canonical Allele Identifier: PA2579795792
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys177Gly
CA2579806826
NM_000071.3:c.529_531delinsGGT
CA2579806829
NM_000071.3:c.529_530delinsGG