ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481979
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285162
ClinVar RCV Id:
RCV000310236
RCV002429224
RCV002519172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val886Met
CA8815828
NM_000152.5:c.2656G>A