Canonical Allele Identifier: PA2579801304
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile435Leu
CA410397122
NM_000071.3:c.1303A>C
CA2579808108
NM_000071.3:c.1303_1305delinsCTA
CA2579808109
NM_000071.3:c.1303_1305delinsTTG
CA2579808110
NM_000071.3:c.1303_1305delinsCTT
CA2579808111
NM_000071.3:c.1303_1305delinsCTG