Canonical Allele Identifier: PA2827070301
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 125
ClinVar RCV Id: RCV000000147 RCV000469164 RCV001192721 RCV001546787 RCV002227958 RCV002313702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg161Lys
CA113891
NM_001321072.1:c.482G>A