ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573240034
Gene: NPHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ala313Val
CA9390598
NM_004646.4:c.938C>T