Canonical Allele Identifier: PA2827070382
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 897572
ClinVar RCV Id: RCV001140939 RCV003293898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Thr191Arg
CA321091411
NM_001321072.1:c.572C>G
CA2579804124
NM_001321072.1:c.571_572delinsCG
CA2579804125
NM_001321072.1:c.571_573delinsCGT