Canonical Allele Identifier: PA2827070967
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2416538
ClinVar RCV Id: RCV003107287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.His408Arg
CA410395613
NM_001321072.1:c.1223A>G
CA2579809105
NM_001321072.1:c.1223_1224delinsGT
CA2579809106
NM_001321072.1:c.1222_1224delinsAGG