ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825462785
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571521
ClinVar RCV Id:
RCV000692691
RCV002469262
RCV003144518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Asp741Asn
CA8815660
NM_001079803.3:c.2221G>A