ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157056
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2167518
ClinVar RCV Id:
RCV003086483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Val114Met
CA3146949
NM_001171988.2:c.340G>A