Canonical Allele Identifier: PA096544
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu456Pro
CA410396812
NM_000071.3:c.1367T>C
CA2579807197
NM_000071.3:c.1367_1368delinsCA
CA2579807199
NM_000071.3:c.1367_1368delinsCT