Canonical Allele Identifier: PA2579795730
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser174Leu
CA2579804747
NM_000071.3:c.520_522delinsTTG
CA2579804748
NM_000071.3:c.520_522delinsCTG
CA2579804749
NM_000071.3:c.520_522delinsCTT