Canonical Allele Identifier: PA2826133326
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188989
ClinVar RCV Id: RCV000169368 RCV003226233 RCV002444680 RCV002515197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Lys102Asn
CA274220
NM_001178009.3:c.306G>C
CA410602002
NM_001178009.3:c.306G>T