ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811054
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501425
ClinVar RCV Id:
RCV000778988
RCV000595557
RCV001055295
RCV001074439
RCV001335698
RCV002476329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Thr1122Pro
CA553638
NM_015102.5:c.3364A>C