Canonical Allele Identifier: PA2579794200
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu101Ser
CA2579808302
NM_000071.3:c.301_302delinsTC
CA2579808304
NM_000071.3:c.301_303delinsAGT