ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017799
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195609
ClinVar RCV Id:
RCV000176217
RCV001085756
RCV004539632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Asp498Asn
CA242085
NM_001291594.2:c.1492G>A