ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065564
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2057503
ClinVar RCV Id:
RCV002923394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Met391Lys
CA401365097
NM_000152.5:c.1172T>A