ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115250
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001939
RCV000713454
RCV001003951
RCV001847564
ClinVar Variation:
1862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158202.1:p.Ala27Glu
CA115247
NM_001164730.2:c.80C>A