Canonical Allele Identifier: PA2827070376
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 421504
ClinVar RCV Id: RCV000482632 RCV004555865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu187Leu
CA16621015
NM_001321072.1:c.559_560delinsTT
CA2579810569
NM_001321072.1:c.559_560delinsCT
CA2579810570
NM_001321072.1:c.559_561delinsCTT
CA2579813739
NM_001321072.1:c.559_561delinsTTA