Canonical Allele Identifier: PA2827043043
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 122
ClinVar RCV Id: RCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu144Lys
CA113885
NM_001320298.2:c.430G>A
CA2579810179
NM_001320298.2:c.430_432delinsAAA