Canonical Allele Identifier: PA096838
Gene: NPHS1 HGNC NCBI
ClinVar Allele:
71097
ClinVar RCV:
RCV000049871
ClinVar Variation:
56458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Asn673Lys
CA250161
NM_004646.4:c.2019C>A
CA9390258
NM_004646.4:c.2019C>G