Canonical Allele Identifier: PA2579801349
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile437Leu
CA410397079
NM_000071.3:c.1309A>C
CA2579808080
NM_000071.3:c.1309_1311delinsTTG
CA2579808082
NM_000071.3:c.1309_1311delinsCTG
CA2579808084
NM_000071.3:c.1309_1311delinsCTT