Canonical Allele Identifier: PA2827043087
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 421268
ClinVar RCV Id: RCV000478922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Lys177Asn
CA16621016
NM_001320298.2:c.531G>C
CA410601259
NM_001320298.2:c.531G>T