ClinGen Allele Registry
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Canonical Allele Identifier:
PA114737
Gene: RPGRIP1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001133
RCV000035002
RCV000114223
RCV000234815
RCV000332989
RCV000473873
RCV001094311
RCV001094370
RCV001705578
RCV002293972
ClinVar Variation:
1078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ala229Thr
CA114735
NM_015272.2:c.685G>A