ClinGen Allele Registry
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Canonical Allele Identifier:
PA251692
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121369.1:p.Gln253Ter
NM_001127897.1:c.757C>T