Canonical Allele Identifier: PA916024748
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 208177
ClinVar RCV Id: RCV000190373 RCV001857669
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg16Leu
CA275933
NM_001321072.1:c.47G>T
CA2579812217
NM_001321072.1:c.47_48delinsTG
CA2579812218
NM_001321072.1:c.46_48delinsTTG
CA2579812219
NM_001321072.1:c.47_48delinsTT