Canonical Allele Identifier: PA2826133122
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 130
ClinVar RCV Id: RCV000000153 RCV000675119 RCV002390082 RCV003226154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Ser466Leu
CA113900
NM_001178008.3:c.1397C>T
CA2579805385
NM_001178008.3:c.1397_1398delinsTA
CA2579805386
NM_001178008.3:c.1396_1397delinsCT