Canonical Allele Identifier: PA2579798916
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro33Val
CA2579805252
NM_000071.3:c.97_99delinsGTT
CA2579805253
NM_000071.3:c.97_99delinsGTG
CA2579805254
NM_000071.3:c.97_98delinsGT