Canonical Allele Identifier: PA2825068726
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ser164Arg
CA1141731
NM_000157.4:c.492C>G
CA342724565
NM_000157.4:c.492C>A
CA342724583
NM_000157.4:c.490A>C