Canonical Allele Identifier: PA2827043071
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 495531
ClinVar RCV Id: RCV000587735 RCV002232223 RCV002287426 RCV003459454 RCV002315881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Cys165Tyr
CA410601403
NM_001320298.2:c.494G>A
CA2579810973
NM_001320298.2:c.494_495delinsAT