ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065137
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002011349
ClinVar Variation:
1509866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Leu195Val
CA401362170
NM_000152.5:c.583T>G