ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741840557
Gene: REEP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158202.1:p.Leu66His
CA347719903
NM_001164730.2:c.197T>A