ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200835
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180461
ClinVar RCV Id:
RCV000157397
RCV000174106
RCV000490526
RCV001123648
RCV000879499
RCV002294056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Glu447Lys
CA200833
NM_004646.4:c.1339G>A