ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828608890
Gene: NPC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362369.1:p.Val39Met
CA340794
NM_001375440.1:c.115G>A