Canonical Allele Identifier: PA2579797034
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr236Arg
CA2579804234
NM_000071.3:c.707_708delinsGG
CA2579804235
NM_000071.3:c.707_708delinsGA