Canonical Allele Identifier: PA2826132805
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212850
ClinVar RCV Id: RCV000196277 RCV001276190
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Asn212Lys
CA320697
NM_001178008.3:c.636C>G
CA410600845
NM_001178008.3:c.636C>A