ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057550852
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004965209
ClinVar Variation:
3480093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Asn294Ile
CA87410334
NM_000055.4:c.881A>T