Canonical Allele Identifier: PA2825066348
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1423013
ClinVar RCV Id: RCV001926412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Lys760Asn
CA401324851
NM_000152.5:c.2280G>C
CA401324852
NM_000152.5:c.2280G>T