Canonical Allele Identifier: PA2579795598
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His17Gly
CA2579808866
NM_000071.3:c.49_50delinsGG
CA2579808867
NM_000071.3:c.49_51delinsGGT