ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024784
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132
ClinVar RCV Id:
RCV000000155
RCV000195441
RCV000576767
RCV000589097
RCV002227962
RCV004018523
RCV003914787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Thr86Met
CA113904
NM_001321072.1:c.257C>T