Canonical Allele Identifier: PA916024766
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 122
ClinVar RCV Id: RCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu39Lys
CA113885
NM_001321072.1:c.115G>A
CA2579810179
NM_001321072.1:c.115_117delinsAAA