ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916015607
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
807639
ClinVar RCV Id:
RCV000995819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Val127Ile
CA343569974
NM_014625.4:c.379G>A