ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645375434
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
328870
ClinVar RCV Id:
RCV000271950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Leu533Pro
CA10652376
NM_004646.4:c.1598T>C