ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065565
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389866
ClinVar RCV Id:
RCV001889399
RCV003146309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Met391Val
CA8815190
NM_000152.5:c.1171A>G