Canonical Allele Identifier: PA916024446
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188825
ClinVar RCV Id: RCV000169171 RCV000480748 RCV002517626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg379Gln
CA274005
NM_001320298.2:c.1136G>A