ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826133550
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Thr262Met
CA275440
NM_001178009.3:c.785C>T