ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101787
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381594
ClinVar RCV Id:
RCV000434888
RCV001318647
RCV003325954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Leu1141Pro
CA16604473
NM_153240.5:c.3422T>C