Canonical Allele Identifier: PA916024448
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 123
ClinVar RCV Id: RCV000000145 RCV003495103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Lys384Glu
CA113887
NM_001320298.2:c.1150A>G