Canonical Allele Identifier: PA2579801623
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp450Phe
CA2579811688
NM_000071.3:c.1348_1349delinsTT
CA2579813814
NM_000071.3:c.1348_1350delinsTTC