Canonical Allele Identifier: PA2827070354
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212855
ClinVar RCV Id: RCV000648120 RCV000731875 RCV002444786 RCV002517999
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ile181Val
CA323231
NM_001321072.1:c.541A>G
CA2579808216
NM_001321072.1:c.541_543delinsGTA
CA2579808217
NM_001321072.1:c.541_543delinsGTT