ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096862
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6874
ClinVar RCV Id:
RCV000007277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Cys265Arg
CA250040
NM_004646.4:c.793T>C