Canonical Allele Identifier: PA2579798185
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro290Arg
CA410600109
NM_000071.3:c.869C>G
CA2579805453
NM_000071.3:c.869_870delinsGT
CA2579805455
NM_000071.3:c.869_870delinsGA