ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827043091
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340088
ClinVar RCV Id:
RCV000279590
RCV002348095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Val178Met
CA10650559
NM_001320298.2:c.532G>A