ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069713094
Gene: BCHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Leu327Phe
CA355111666
NM_000055.4:c.979C>T