ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065143
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001226399
ClinVar Variation:
954018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Thr197Ile
CA401362206
NM_000152.5:c.590C>T