Allele Registry

Canonical Allele Identifier: PA2579796924

Gene: CBS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Leu230Gln	CA410600601 NM_000071.3:c.689T>A CA2579813609 NM_000071.3:c.689_690delinsAA