Canonical Allele Identifier: PA2579792092
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg498Ser
CA410395794
NM_000071.3:c.1494G>C
CA410395797
NM_000071.3:c.1494G>T
CA2579811870
NM_000071.3:c.1492_1493delinsTC