ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113490
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1068774
ClinVar RCV Id:
RCV001380442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Leu405Pro
CA401365198
NM_000152.5:c.1214T>C