Canonical Allele Identifier: PA2825665300
Gene: NPHP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121650.1:p.Gly200Asp
CA1827351
NM_001128178.3:c.599G>A