Canonical Allele Identifier: PA2827070362
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 936814

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala183Ser
CA321091499
NM_001321072.1:c.547G>T
CA2579812911
NM_001321072.1:c.547_549delinsAGT
CA2579812912
NM_001321072.1:c.547_549delinsTCT