ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682249
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447874
ClinVar RCV Id:
RCV001277293
RCV001127721
RCV002060249
RCV003942697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ala540Glu
CA9390387
NM_004646.4:c.1619C>A