ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: BCHE
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000046.1:p.Leu334Ter
NM_000055.4:c.[1001del;1003C>A]
NM_000055.4:c.[1001del;1003C>G]
NM_000055.4:c.1001T>A
NM_000055.4:c.1001T>G
