ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145774
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92477
ClinVar RCV Id:
RCV000078172
RCV000296830
RCV000675246
RCV002453395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val816Ile
CA145772
NM_000152.5:c.2446G>A