ClinGen Allele Registry
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Canonical Allele Identifier:
PA916024765
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471365
ClinVar RCV Id:
RCV000538588
RCV001755867
RCV002330936
RCV002530067
RCV003915591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Glu39Gln
CA321097472
NM_001321072.1:c.115G>C