ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346565
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180462
ClinVar RCV Id:
RCV000157398
RCV000671934
RCV000910963
RCV001127722
RCV002294057
RCV003917541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Thr537Met
CA346563
NM_004646.4:c.1610C>T