ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828608954
Gene: NPC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362369.1:p.Val73Met
CA263660967
NM_001375440.1:c.217G>A