Canonical Allele Identifier: PA097221
Gene: NPHS1 HGNC NCBI
ClinVar RCV:
RCV000049875
ClinVar Variation:
56462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Val709Gly
CA250167
NM_004646.4:c.2126T>G