ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826133663
Gene: CBS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15170
ClinVar RCV:
RCV000000154
RCV000078106
RCV000169466
RCV002227961
RCV002271361
RCV004018522
ClinVar Variation:
131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Thr353Met
CA113902
NM_001178009.3:c.1058C>T