ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830001739
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465821
ClinVar RCV Id:
RCV000611545
RCV000531522
RCV002341332
RCV003892136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075063.1:p.Pro173Leu
CA1748695
NM_022912.3:c.518C>T