Canonical Allele Identifier: PA2579795368
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro16Leu
CA410602550
NM_000071.3:c.47C>T
CA2579805899
NM_000071.3:c.47_48delinsTA
CA2579805900
NM_000071.3:c.47_48delinsTT
CA2579805902
NM_000071.3:c.46_48delinsTTG