ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825665885
Gene: NPHP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501727
ClinVar RCV Id:
RCV000594034
RCV000638098
RCV004543376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121651.1:p.Ile410Met
CA1827026
NM_001128179.3:c.1230A>G