ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065738
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657737
ClinVar RCV Id:
RCV000814412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Thr469Ile
CA8815307
NM_000152.5:c.1406C>T