ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825665182
Gene: NPHP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430207
ClinVar RCV Id:
RCV000493608
RCV001408140
RCV004535553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121650.1:p.Arg15Ser
CA1827542
NM_001128178.3:c.43C>A