ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510126
Gene: NPHS2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055440.1:p.Arg322Ter
NM_014625.4:c.964C>T