ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115396
Gene: NPSR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_997056.1:p.Asn107Ile
NM_207173.2:c.320A>T