Canonical Allele Identifier: PA2579792448
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu514Gly
CA410395580
NM_000071.3:c.1541A>G
CA2579809744
NM_000071.3:c.1541_1542delinsGT
CA2579813756
NM_000071.3:c.1541_1542delinsGA