ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250220
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56493
ClinVar RCV Id:
RCV000049906
RCV002294009
RCV002513693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Asp105Asn
CA250218
NM_004646.4:c.313G>A