ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573240059
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401486
ClinVar RCV Id:
RCV001906313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ile397Leu
CA405405855
NM_004646.4:c.1189A>C