ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825461174
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198392
ClinVar RCV Id:
RCV000179719
RCV000557680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Ile383Val
CA247028
NM_001079803.3:c.1147A>G