ClinGen Allele Registry
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Canonical Allele Identifier:
PA254413
Gene: NPC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006423.1:p.Gln146Ter
NM_006432.5:c.436C>T