ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828102939
Gene: NPC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314239
ClinVar RCV Id:
RCV000335990
RCV000595194
RCV000818277
RCV002522323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350617.1:p.Lys71Arg
CA7268167
NM_001363688.1:c.212A>G