ClinGen Allele Registry
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Canonical Allele Identifier:
PA094177
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000148.2:p.Asp448His
NM_000157.4:c.1342G>C
NM_000157.4:c.1342G>C