Canonical Allele Identifier: PA2579802074
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala48Val
CA410602354
NM_000071.3:c.143C>T
CA2579812509
NM_000071.3:c.143_144delinsTG