ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113668
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371277
ClinVar RCV Id:
RCV000410150
RCV000733496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Pro522Ala
CA16041893
NM_000152.5:c.1564C>G