ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827268523
Gene: REEP6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001304257
ClinVar Variation:
1007117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316485.1:p.Ser70Leu
CA403056546
NM_001329556.3:c.209C>T