ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741927060
Gene: NPC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006423.1:p.Pro120Thr
CA390532242
NM_006432.5:c.358C>A