ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341576
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
47036
ClinVar RCV:
RCV000020146
ClinVar Variation:
38301
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Asn409Thr
CA341575
NM_000157.4:c.1226A>C