Canonical Allele Identifier: PA645500141
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 421504
ClinVar RCV Id: RCV000482632 RCV004555865
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu292Leu
CA16621015
NM_000071.3:c.874_875delinsTT
CA2579810569
NM_000071.3:c.874_875delinsCT
CA2579810570
NM_000071.3:c.874_876delinsCTT
CA2579813739
NM_000071.3:c.874_876delinsTTA