ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113532
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4021
ClinVar RCV Id:
RCV000004236
RCV000727662
RCV000780268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Met318Thr
CA116590
NM_000152.5:c.953T>C