Canonical Allele Identifier: PA2826088838
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Asn414Lys
CA342710805
NM_001171811.2:c.1242C>G
CA342710824
NM_001171811.2:c.1242C>A