Canonical Allele Identifier: PA2579798059
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly284Ser
CA2579809424
NM_000071.3:c.850_851delinsTC
CA2579813692
NM_000071.3:c.850_852delinsAGT