Canonical Allele Identifier: PA1139671702
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 972801
ClinVar RCV Id: RCV001249047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.His612Gln
CA401369564
NM_001079804.3:c.1836C>A
CA401369566
NM_001079804.3:c.1836C>G