Canonical Allele Identifier: PA2579801241
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly432Leu
CA2579809607
NM_000071.3:c.1294_1296delinsCTT
CA2579809609
NM_000071.3:c.1294_1295delinsTT
CA2579809610
NM_000071.3:c.1294_1295delinsCT