ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677041
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450392
ClinVar RCV Id:
RCV000731009
RCV000764466
RCV001086831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Ser361Cys
CA2622426
NM_153240.5:c.1082C>G