Canonical Allele Identifier: PA916024374
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212874
ClinVar RCV Id: RCV000195506 RCV001063052 RCV002228834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Gly85Arg
CA319849
NM_001320298.2:c.253G>A
CA410602117
NM_001320298.2:c.253G>C
CA2579808902
NM_001320298.2:c.253_255delinsAGA