Canonical Allele Identifier: PA2825459956
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1518134
ClinVar RCV Id: RCV002021521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser132Arg
CA401361029
NM_001079803.3:c.394A>C
CA401361040
NM_001079803.3:c.396C>A
CA401361041
NM_001079803.3:c.396C>G