ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828224481
Gene: ACHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354846.1:p.His353Asn
CA128044
NM_001367917.1:c.1057C>A