Canonical Allele Identifier: PA2579797203
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys244Ser
CA410600434
NM_000071.3:c.731G>C
CA410600441
NM_000071.3:c.730T>A
CA2579810961
NM_000071.3:c.731_732delinsCG