Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826841978

Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201903

ClinVar RCV Id: RCV002647718

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284504.1:p.Leu104Phe	CA343571017 NM_001297575.2:c.310C>T