ClinGen Allele Registry
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Canonical Allele Identifier:
PA916024753
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340089
ClinVar RCV Id:
RCV000667483
RCV001175468
RCV002231054
RCV003736733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Arg20Trp
CA10644742
NM_001321072.1:c.58C>T