ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112961
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92472
ClinVar RCV Id:
RCV000174831
RCV000792061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg702Leu
CA220396
NM_000152.5:c.2105G>T