ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580146593
Gene: RPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2458637
ClinVar RCV Id:
RCV004248908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116437.1:p.Cys111Arg
CA1099755
NM_001122965.1:c.331T>C