Canonical Allele Identifier: PA2828480601
Gene: NPHP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361186.1:p.Gly200Asp
CA1827351
NM_001374257.1:c.599G>A