Canonical Allele Identifier: PA2826132807
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2915307
ClinVar RCV Id: RCV003598762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Glu213Gly
CA410600837
NM_001178008.3:c.638A>G
CA2579810041
NM_001178008.3:c.638_639delinsGT
CA2579810042
NM_001178008.3:c.638_639delinsGG
CA2579813779
NM_001178008.3:c.638_639delinsGC