ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580307018
Gene: NPHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Glu246Lys
CA9390672
NM_004646.4:c.736G>A