Canonical Allele Identifier: PA321525
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212840
ClinVar RCV Id: RCV000197083 RCV002229439 RCV002336521
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro12Ser
CA321523
NM_000071.3:c.34C>T
CA2579805966
NM_000071.3:c.34_36delinsTCA
CA2579805967
NM_000071.3:c.34_36delinsTCG
CA2579805968
NM_000071.3:c.34_36delinsAGT
CA2579805969
NM_000071.3:c.34_35delinsAG
CA2579813534
NM_000071.3:c.34_36delinsTCT