ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667293
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461759
ClinVar RCV Id:
RCV001334836
RCV001829574
RCV000550791
RCV004537945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Thr256Ile
CA8058034
NM_015272.2:c.767C>T