ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263280
Gene: SORL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001579506
RCV002072285
ClinVar Variation:
1209925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003096.2:p.Ala528Thr
CA6328666
NM_003105.6:c.1582G>A