Canonical Allele Identifier: PA2826132893
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 373629
ClinVar RCV Id: RCV000413391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Pro282Ser
CA16043118
NM_001178008.3:c.844C>T
CA2579805465
NM_001178008.3:c.844_846delinsTCT
CA2579805466
NM_001178008.3:c.844_846delinsAGT