ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672265
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943435
ClinVar RCV Id:
RCV001213620
RCV003130188
RCV003294028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Glu866Ala
CA401326319
NM_001079804.3:c.2597A>C