ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068675177
Gene: BCHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.His400Tyr
CA2692356
NM_000055.4:c.1198C>T