ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826933976
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Ala229Thr
CA114735
NM_001308334.3:c.685G>A