ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086033367
Gene: NPHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ser350Ala
CA405406529
NM_004646.4:c.1048T>G