ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826523
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551837
ClinVar RCV Id:
RCV000666990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Glu568_Ala573dup
CA658823115
NM_000055.4:c.1703_1720dup