ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145762
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92467
ClinVar RCV Id:
RCV000078161
RCV000353996
RCV000431108
RCV003298132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly576Ser
CA145760
NM_000152.5:c.1726G>A