ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242086
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_055917.1:p.Asp1010Asn
CA242085
NM_015102.5:c.3028G>A