ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826516
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550155
ClinVar RCV Id:
RCV000664821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Arg498Trp
CA2692299
NM_000055.4:c.1492C>T