ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068427998
Gene: BCHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Pro331Leu
CA355111637
NM_000055.4:c.992C>T