Canonical Allele Identifier: PA2579801648
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu451Leu
CA2579809794
NM_000071.3:c.1351_1352delinsCT
CA2579809795
NM_000071.3:c.1351_1352delinsTT
CA2579809798
NM_000071.3:c.1351_1353delinsCTT
CA2579813773
NM_000071.3:c.1351_1353delinsTTA