ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096830
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282372
ClinVar RCV Id:
RCV000353631
RCV000665656
RCV000958774
RCV001125723
RCV002294214
RCV003920050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Asn188Ile
CA9390759
NM_004646.4:c.563A>T