ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA048394
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242633
ClinVar RCV Id:
RCV000657159
RCV000681482
RCV000790184
RCV003321573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158204.1:p.Arg124Gly
CA048346
NM_001164732.2:c.370A>G