ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017856
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499260
ClinVar RCV Id:
RCV000592208
RCV001088286
RCV001849405
RCV003151110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Pro816Leu
CA553402
NM_001291594.2:c.2447C>T