ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845685
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579993
ClinVar RCV Id:
RCV000703411
RCV003144561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.His372Tyr
CA401364982
NM_000152.5:c.1114C>T