ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825124183
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001003205
RCV001809894
ClinVar Variation:
812421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000319.1:p.Gly165Asp
CA412744917
NM_000328.3:c.494G>A