ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828480295
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_001358209.1:p.Glu160Lys
CA322595
NM_001371280.1:c.478G>A