ClinGen Allele Registry
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Canonical Allele Identifier:
PA645375300
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290122
ClinVar RCV Id:
RCV000361967
RCV001125721
RCV001272299
RCV003417918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ser220Ala
CA9390706
NM_004646.4:c.658T>G