ClinGen Allele Registry
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Canonical Allele Identifier:
PA236023
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188907
ClinVar RCV:
RCV000171282
RCV001808442
ClinVar Variation:
191103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Thr1129Pro
CA236021
NM_004646.4:c.3385A>C