ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065829
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001233657
RCV001507902
ClinVar Variation:
960182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp513Asn
CA8815361
NM_000152.5:c.1537G>A