Canonical Allele Identifier: PA096053
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg125Pro
CA410601843
NM_000071.3:c.374G>C
CA2579812192
NM_000071.3:c.374_375delinsCT