ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678536
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456382
ClinVar RCV Id:
RCV000548222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Glu50Lys
CA401360339
NM_000152.5:c.148G>A