ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828731767
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
883035
ClinVar RCV Id:
RCV001113174
RCV001113175
RCV001245884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364877.1:p.Ser330Leu
CA7089145
NM_001377948.1:c.989C>T