ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826133703
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_001171480.1:p.Lys384Glu
CA113887
NM_001178009.3:c.1150A>G