Canonical Allele Identifier: PA2579793612
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser73Phe
CA410602190
NM_000071.3:c.218C>T
CA2579804391
NM_000071.3:c.218_219delinsTC