ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802189
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371305
ClinVar RCV Id:
RCV000612594
RCV000410956
RCV001782875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Met439Lys
CA8815258
NM_001079803.3:c.1316T>A