ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322596
Gene: REEP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001158204.1:p.Glu141Lys
NM_001164732.2:c.421G>A