ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826133718
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Glu399Lys
CA410397715
NM_001178009.3:c.1195G>A