ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096888
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56443
ClinVar RCV Id:
RCV000049856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Cys528Phe
CA250127
NM_004646.4:c.1583G>T