ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113038
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92465
ClinVar RCV Id:
RCV000173646
RCV000790665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp489Asn
CA220390
NM_000152.5:c.1465G>A