ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827935536
Gene: ADD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2296562
ClinVar RCV Id:
RCV004147161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341686.1:p.Ser468Leu
CA2820087
NM_001354757.2:c.1403C>T