ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198775
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168658
RCV000852728
RCV001000493
RCV001721094
RCV003907529
RCV004020009
ClinVar Variation:
188476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Leu226Val
CA198772
NM_001079803.3:c.676C>G