Canonical Allele Identifier: PA2827043003
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 208177
ClinVar RCV Id: RCV000190373 RCV001857669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg121Leu
CA275933
NM_001320298.2:c.362G>T
CA2579812217
NM_001320298.2:c.362_363delinsTG
CA2579812218
NM_001320298.2:c.361_363delinsTTG
CA2579812219
NM_001320298.2:c.362_363delinsTT