ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375593
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259491
ClinVar RCV Id:
RCV000242719
RCV000883305
RCV001127648
RCV000665537
RCV002294142
RCV003891928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ala916Ser
CA9390034
NM_004646.4:c.2746G>T