ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670370
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
845665
ClinVar RCV Id:
RCV001048776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Glu104del
CA916082437
NM_001079804.3:c.311_313del