ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685534
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
858963
ClinVar RCV Id:
RCV001064957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Thr23Ile
CA401360134
NM_001079804.3:c.68C>T