Canonical Allele Identifier: PA2579793680
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile76Leu
CA410602176
NM_000071.3:c.226A>C
CA2579808372
NM_000071.3:c.226_228delinsCTT
CA2579808373
NM_000071.3:c.226_228delinsCTG
CA2579808374
NM_000071.3:c.226_228delinsTTG