ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096640
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56494
ClinVar RCV Id:
RCV000049907
RCV001169934
RCV003330420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ala107Thr
CA250221
NM_004646.4:c.319G>A