ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093013
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13220
ClinVar RCV Id:
RCV000014120
RCV000309118
RCV001804729
RCV002274899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Ala567Thr
CA122967
NM_000055.4:c.1699G>A