ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096872
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56433
ClinVar RCV Id:
RCV000049846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Cys417Phe
CA250111
NM_004646.4:c.1250G>T