ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065221
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2577230
ClinVar RCV Id:
RCV003324307
RCV003481490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala237Glu
CA401363061
NM_000152.5:c.710C>A