Canonical Allele Identifier: PA2827043083
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1922799
ClinVar RCV Id: RCV002634443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu176Gln
CA410601281
NM_001320298.2:c.526G>C