ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580206263
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Pro88Ala
CA410602098
NM_001320298.2:c.262C>G