Canonical Allele Identifier: PA2580206409
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1868180
ClinVar RCV Id: RCV002510263 RCV002571590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg491Cys
CA410395895
NM_001320298.2:c.1471C>T
CA2579811907
NM_001320298.2:c.1471_1473delinsTGT