Allele Registry

Canonical Allele Identifier: PA096393

Gene: CBS HGNC NCBI

ClinVar Variation Id: 121

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Gly139Arg	CA113883 NM_000071.3:c.415G>A CA410601731 NM_000071.3:c.415G>C CA2579809693 NM_000071.3:c.415_417delinsAGA