Canonical Allele Identifier: PA916024445
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212881
ClinVar RCV Id: RCV000196320 RCV001853130 RCV000763061 RCV003987440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg379Trp
CA320740
NM_001320298.2:c.1135C>T