Canonical Allele Identifier: PA2827070200
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Asn123Lys
CA410600615
NM_001321072.1:c.369C>G
CA410600617
NM_001321072.1:c.369C>A