ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139688674
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
855116
ClinVar RCV Id:
RCV001060299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Pro175Ser
CA3146893
NM_001171988.2:c.523C>T