Canonical Allele Identifier: PA2579797035
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr236Asp
CA2579804232
NM_000071.3:c.706_707delinsGA
CA2579804233
NM_000071.3:c.706_708delinsGAT