ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139696251
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944779
ClinVar RCV Id:
RCV002241213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Cys244Tyr
CA410600436
NM_001320298.2:c.731G>A