Canonical Allele Identifier: PA2579794075
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile95Val
CA410602051
NM_000071.3:c.283A>G
CA2579808316
NM_000071.3:c.283_285delinsGTA
CA2579808317
NM_000071.3:c.283_285delinsGTG