ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727714
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
889500
ClinVar RCV Id:
RCV001123447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Asp1223Asn
CA405415102
NM_004646.4:c.3667G>A