Canonical Allele Identifier: PA2825464067
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1745469
ClinVar RCV Id: RCV002344183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val171Leu
CA401361709
NM_001079804.3:c.511G>C
CA401361711
NM_001079804.3:c.511G>T