ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145771
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078171
RCV000336875
RCV000675244
RCV002444547
ClinVar Variation:
92476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val780Ile
CA145769
NM_000152.5:c.2338G>A