Canonical Allele Identifier: PA2499237182
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1009071
ClinVar RCV Id: RCV001306509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val236Leu
CA8814999
NM_001079804.3:c.706G>T
CA401363032
NM_001079804.3:c.706G>C