ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA096790
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71111
ClinVar RCV:
RCV000049885
ClinVar Variation:
56472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg802Pro
CA250183
NM_004646.4:c.2405G>C