ClinGen Allele Registry
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Canonical Allele Identifier:
PA658829084
Gene: NPHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Thr1051Ala
CA9389908
NM_004646.4:c.3151A>G