ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283015
Gene: SORL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2377455
ClinVar RCV Id:
RCV004215796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003096.2:p.Arg480His
CA6328625
NM_003105.6:c.1439G>A