Canonical Allele Identifier: PA916024488
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 124
ClinVar RCV Id: RCV000000146 RCV000675072 RCV002468955 RCV003597960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu539Ser
CA113889
NM_001320298.2:c.1616T>C
CA2579806942
NM_001320298.2:c.1616_1617delinsCT
CA2579806943
NM_001320298.2:c.1615_1617delinsAGT