ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111498
Gene: RP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10549
ClinVar RCV Id:
RCV000011295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008846.2:p.Arg118Leu
CA255304
NM_006915.3:c.353G>T