Canonical Allele Identifier: PA2827070155
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2915307
ClinVar RCV Id: RCV003598762

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu108Gly
CA410600837
NM_001321072.1:c.323A>G
CA2579810041
NM_001321072.1:c.323_324delinsGT
CA2579810042
NM_001321072.1:c.323_324delinsGG
CA2579813779
NM_001321072.1:c.323_324delinsGC