Canonical Allele Identifier: PA2830528751
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501727
ClinVar RCV Id: RCV000594034 RCV000638098 RCV004543376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997064.2:p.Ile528Met
CA1827026
NM_207181.4:c.1584A>G