ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194478
Gene: NPHP4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Ile413Thr
CA554592
NM_015102.5:c.1238T>C