Canonical Allele Identifier: PA2827043042
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 471365
ClinVar RCV Id: RCV000538588 RCV001755867 RCV002330936 RCV002530067 RCV003915591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu144Gln
CA321097472
NM_001320298.2:c.430G>C