Canonical Allele Identifier: PA2579794668
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser123Leu
CA2579804784
NM_000071.3:c.367_369delinsTTG
CA2579813488
NM_000071.3:c.367_368delinsCT