ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108772
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195261
ClinVar RCV Id:
RCV000175822
RCV000302193
RCV000504802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Leu172Arg
CA241609
NM_006269.2:c.515T>G