ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097230
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6875
ClinVar RCV Id:
RCV000007278
RCV001851717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Val822Met
CA250042
NM_004646.4:c.2464G>A