ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830439141
Gene: NHS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938011.1:p.Arg248Gln
CA326964673
NM_198270.4:c.743G>A