Canonical Allele Identifier: PA2827070560
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 193971
ClinVar RCV Id: RCV000474043 RCV000420634 RCV002415740 RCV002517673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Val253Met
CA239721
NM_001321072.1:c.757G>A