ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992286
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
650146
ClinVar RCV Id:
RCV000805244
RCV001251880
RCV002279539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Leu126Val
CA3146942
NM_001171988.2:c.376C>G