ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017818
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500975
ClinVar RCV Id:
RCV000597836
RCV000638099
RCV000765245
RCV001096629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Ala586Thr
CA553715
NM_001291594.2:c.1756G>A