ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964957
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92482
ClinVar RCV Id:
RCV000078178
RCV000308857
RCV000675250
RCV002433584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Thr927Ile
CA145778
NM_001079804.3:c.2780C>T