ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3088332033
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171479.1:p.Pro49Arg
CA321103880
NM_001178008.3:c.146C>G