Canonical Allele Identifier: PA2579798292
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln295Val
CA2579810746
NM_000071.3:c.883_884delinsGT
CA2579810747
NM_000071.3:c.883_885delinsGTT
CA2579810748
NM_000071.3:c.883_885delinsGTC