Allele Registry

Canonical Allele Identifier: PA2827070709

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000000152

RCV000522394

RCV000675050

RCV002444412

ClinVar Variation:

129

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Pro317Leu	CA113898 NM_001321072.1:c.950C>T CA2579805180 NM_001321072.1:c.949_950delinsTT CA2579805181 NM_001321072.1:c.950_951delinsTT CA2579813503 NM_001321072.1:c.950_951delinsTC