ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825460896
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178323
ClinVar RCV:
RCV000156939
RCV001579766
ClinVar Variation:
180142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Gly335Glu
CA273683
NM_001079803.3:c.1004G>A