ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826002543
Gene: REEP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158202.1:p.Arg184Trp
CA1748693
NM_001164730.2:c.550C>T