ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096711
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
328874
ClinVar RCV Id:
RCV000319702
RCV001859938
RCV003114489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg299Cys
CA9390606
NM_004646.4:c.895C>T