Canonical Allele Identifier: PA2499248494
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1192201
ClinVar RCV Id: RCV001553570
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala288Pro
CA410600125
NM_001320298.2:c.862G>C
CA2579812913
NM_001320298.2:c.862_864delinsCCT