ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830261614
Gene: NFAT5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619727.2:p.Ser947Leu
CA283373738
NM_138713.4:c.2840C>T