ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047039
Gene: ACHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354847.1:p.His420Asn
CA128044
NM_001367918.1:c.1258C>A