Canonical Allele Identifier: PA096658
Gene: NPHS1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ala739Val
CA250174
NM_004646.4:c.2216C>T