ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828102952
Gene: NPC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303422
ClinVar RCV Id:
RCV001757977
RCV002032783
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350617.1:p.Pro88Ser
CA390532463
NM_001363688.1:c.262C>T