ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095377
Gene: NPHS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Pro175Val
CA2586967785
NM_014625.4:c.522_524delinsTGT