ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573091652
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1304725
ClinVar RCV Id:
RCV001764961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ile830Thr
CA395914509
NM_015272.2:c.2489T>C