Canonical Allele Identifier: PA2573176733
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1380873
ClinVar RCV Id: RCV001895092

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Phe506Leu
CA401367083
NM_001079804.3:c.1516T>C
CA401367088
NM_001079804.3:c.1518C>A
CA401367089
NM_001079804.3:c.1518C>G