ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687139
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Met75Lys
CA342724678
NM_001171811.2:c.224T>A