Canonical Allele Identifier: PA2579795707
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met173Ile
CA321096619
NM_000071.3:c.519G>A
CA410601306
NM_000071.3:c.519G>C
CA410601308
NM_000071.3:c.519G>T