Canonical Allele Identifier: PA2579797974
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val280Ala
CA410600170
NM_000071.3:c.839T>C
CA2579803213
NM_000071.3:c.839_840delinsCT