ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828479974
Gene: REEP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236570
RCV001086893
RCV002347923
RCV003939905
ClinVar Variation:
245986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358208.1:p.Arg177Trp
CA1748693
NM_001371279.1:c.529C>T