ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829887430
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_060641.2:p.Arg470Cys
CA6759525
NM_018171.5:c.1408C>T