ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263283
Gene: SORL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001521872
RCV002246407
ClinVar Variation:
1169971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003096.2:p.Thr947Met
CA6329068
NM_003105.6:c.2840C>T