Canonical Allele Identifier: PA2741863175
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 3004170
ClinVar RCV Id: RCV003865809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala226Ser
CA410600648
NM_001320298.2:c.676G>T
CA2579813925
NM_001320298.2:c.676_678delinsAGT