Allele Registry

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Canonical Allele Identifier: PA2826132825

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 917816

ClinVar RCV Id: RCV001175076 RCV001833732 RCV003495233

ClinVar Variation Id: 928858

ClinVar RCV Id: RCV001193391

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171479.1:p.Asn228Lys	CA410600615 NM_001178008.3:c.684C>G CA410600617 NM_001178008.3:c.684C>A