Canonical Allele Identifier: PA2579801110
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu426Val
CA410397269
NM_000071.3:c.1276C>G
CA2579807257
NM_000071.3:c.1276_1278delinsGTT
CA2579807258
NM_000071.3:c.1276_1278delinsGTA
CA2579807260
NM_000071.3:c.1276_1278delinsGTG