Canonical Allele Identifier: PA2827043086
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2756119
ClinVar RCV Id: RCV003495852

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu176Gly
CA410601275
NM_001320298.2:c.527A>G
CA2579810084
NM_001320298.2:c.527_528delinsGT