ClinGen Allele Registry
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Canonical Allele Identifier:
PA645502460
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288173
ClinVar RCV Id:
RCV000296994
RCV000324865
RCV000377050
RCV001093864
RCV004535409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.His267Leu
CA554739
NM_015102.5:c.800A>T