ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827070622
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
123
ClinVar RCV Id:
RCV000000145
RCV003495103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Lys279Glu
CA113887
NM_001321072.1:c.835A>G