Canonical Allele Identifier: PA2579795754
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Tyr
CA410601289
NM_000071.3:c.524C>A
CA2579804686
NM_000071.3:c.524_525delinsAT