Canonical Allele Identifier: PA2579794270
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu104Leu
CA2579810844
NM_000071.3:c.310_311delinsTT
CA2579810847
NM_000071.3:c.310_311delinsCT