ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093113
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000779399
ClinVar Variation:
632412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Glu488Lys
CA2692306
NM_000055.4:c.1462G>A