ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992311
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558964
ClinVar RCV Id:
RCV000675817
RCV001559242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Ile172Thr
CA3146895
NM_001171988.2:c.515T>C