ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481609
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290223
ClinVar RCV Id:
RCV000287222
RCV000631099
RCV001705433
RCV003930185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val222Met
CA8814957
NM_000152.5:c.664G>A