Canonical Allele Identifier: PA916024378
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 189185
ClinVar RCV Id: RCV000169617 RCV001251397 RCV002228615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu101Pro
CA274473
NM_001320298.2:c.302T>C
CA2579813640
NM_001320298.2:c.302_303delinsCA