Canonical Allele Identifier: PA2827070723
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212867
ClinVar RCV Id: RCV000197292 RCV000584030 RCV002517170 RCV003462306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Pro322Leu
CA321746
NM_001321072.1:c.965C>T
CA2579805633
NM_001321072.1:c.965_966delinsTA
CA2579805634
NM_001321072.1:c.965_966delinsTT
CA2579805635
NM_001321072.1:c.964_965delinsTT
CA2579805636
NM_001321072.1:c.965_966delinsTC