Canonical Allele Identifier: PA2579794062
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1796577
ClinVar RCV Id: RCV002435108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys94Asn
CA410602052
NM_000071.3:c.282G>T
CA410602053
NM_000071.3:c.282G>C