ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826132830
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171479.1:p.His232Asp
CA410600584
NM_001178008.3:c.694C>G