ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487588
Gene: BCHE
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000046.1:p.Glu510Ter
NM_000055.4:c.1528G>T