Canonical Allele Identifier: PA2579795376
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala157Pro
CA410601489
NM_000071.3:c.469G>C
CA2579813181
NM_000071.3:c.469_471delinsCCC
CA2579813934
NM_000071.3:c.469_471delinsCCA