Canonical Allele Identifier: PA2827042996
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188787
ClinVar RCV Id: RCV000169116 RCV001844063 RCV002228606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Gly116Arg
CA273957
NM_001320298.2:c.346G>A
CA410601899
NM_001320298.2:c.346G>C
CA2579810109
NM_001320298.2:c.346_348delinsAGA
CA2579813745
NM_001320298.2:c.346_348delinsCGC