ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678678
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449871
ClinVar RCV Id:
RCV000520829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp243Asn
CA401363168
NM_000152.5:c.727G>A