ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826104026
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55953
ClinVar RCV Id:
RCV000049362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Thr247Ile
CA144033
NM_001171988.2:c.740C>T