ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3080412866
Gene: APPL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060641.2:p.Ala485Val
CA386375822
NM_018171.5:c.1454C>T