Canonical Allele Identifier: PA2579797118
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile240Val
CA410600486
NM_000071.3:c.718A>G
CA2579808460
NM_000071.3:c.718_720delinsGTT