ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828224103
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_001354844.1:p.His353Asn
CA128044
NM_001367915.1:c.1057C>A