Canonical Allele Identifier: PA2825068780
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Glu272Asp
CA342720382
NM_000157.4:c.816A>T
CA342720383
NM_000157.4:c.816A>C