Canonical Allele Identifier: PA2579792144
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser500Leu
CA321686665
NM_000071.3:c.1499C>T
CA2579805303
NM_000071.3:c.1498_1499delinsCT
CA2579813453
NM_000071.3:c.1498_1500delinsCTT