Canonical Allele Identifier: PA916024373
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188988
ClinVar RCV Id: RCV000169367 RCV003226232 RCV002444679 RCV002515196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro78Arg
CA274218
NM_001320298.2:c.233C>G
CA2579804795
NM_001320298.2:c.233_234delinsGG