Canonical Allele Identifier: PA2579796847
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser227Phe
CA2579813448
NM_000071.3:c.679_681delinsTTT
CA2579813449
NM_000071.3:c.679_680delinsTT