ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829777812
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016708
ClinVar RCV Id:
RCV001315751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Ala1340Val
CA553378
NM_015102.5:c.4019C>T