Canonical Allele Identifier: PA2826133096
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 126
ClinVar RCV Id: RCV000000148 RCV000000149 RCV000078108 RCV000174656 RCV000781196 RCV002381232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Asp444Asn
CA113893
NM_001178008.3:c.1330G>A
CA2579811721
NM_001178008.3:c.1330_1332delinsAAT