ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825068811
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Pro305Leu
CA342719286
NM_000157.4:c.914C>T