Canonical Allele Identifier: PA916024389
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001307227.1:p.Arg224Cys
NM_001320298.2:c.670C>T

NM_001320298.2:c.670_672delinsTGT