Canonical Allele Identifier: PA2579796778
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Tyr223His
CA410600682
NM_000071.3:c.667T>C
CA2579803533
NM_000071.3:c.667_669delinsCAT