ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246850
Gene: NHS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938011.1:p.Val514Met
CA246849
NM_198270.4:c.1540G>A