Canonical Allele Identifier: PA096974
Gene: NPHS1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ile742Thr
CA250176
NM_004646.4:c.2225T>C