ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481547
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325776
ClinVar RCV Id:
RCV000399666
RCV000595797
RCV001508997
RCV003912356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Pro86Arg
CA8814828
NM_000152.5:c.257C>G