Canonical Allele Identifier: PA2579796843
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser227Arg
CA410600629
NM_000071.3:c.681C>G
CA410600630
NM_000071.3:c.681C>A
CA410600640
NM_000071.3:c.679A>C
CA2579804607
NM_000071.3:c.679_681delinsCGG
CA2579813454
NM_000071.3:c.679_681delinsCGT