ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828102967
Gene: NPC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350617.1:p.Ile101Met
CA390532371
NM_001363688.1:c.303C>G