ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743079
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215087
ClinVar RCV Id:
RCV000415754
RCV000986787
RCV003165456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358208.1:p.Glu282Lys
CA322595
NM_001371279.1:c.844G>A