ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825461705
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482744
ClinVar RCV Id:
RCV002003010
RCV003136406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Pro488Leu
CA401366865
NM_001079803.3:c.1463C>T