ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580179050
Gene: APPL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2231647
ClinVar RCV Id:
RCV004093795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001238833.1:p.Arg476Cys
CA6759525
NM_001251904.2:c.1426C>T