ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580336645
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1910164
ClinVar RCV Id:
RCV002593062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Pro836Leu
CA4751551
NM_006269.2:c.2507C>T