ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580133558
Gene: NPS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025184.1:p.Thr47Pro
CA5744322
NM_001030013.2:c.139A>C