ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828479704
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424660
ClinVar RCV Id:
RCV000516005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358208.1:p.Ala20Pro
CA347722695
NM_001371279.1:c.58G>C