ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487596
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
344088
ClinVar RCV Id:
RCV000404222
RCV002520107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Asn579Ser
CA2692198
NM_000055.4:c.1736A>G