Canonical Allele Identifier: PA2828479834
Gene: NPHP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Thr317Ile
CA1827170
NM_001374256.1:c.950C>T