Canonical Allele Identifier: PA096949
Gene: NPHS1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Gly412Cys
CA250109
NM_004646.4:c.1234G>T