ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128045
Gene: ACHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020001
ClinVar Variation:
18335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000656.1:p.His353Asn
CA128044
NM_000665.5:c.1057C>A