Canonical Allele Identifier: PA916024463
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 189088
ClinVar RCV Id: RCV000169494 RCV000587586 RCV003153461 RCV003155100 RCV003298197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg439Gln
CA274364
NM_001320298.2:c.1316G>A