ClinGen Allele Registry
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Canonical Allele Identifier:
PA111482
Gene: RP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
437944
ClinVar RCV Id:
RCV000504762
RCV001003184
RCV001091011
RCV002283485
RCV001257800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008846.2:p.Arg118Cys
CA413039367
NM_006915.3:c.352C>T