ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825231231
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1960835
ClinVar RCV Id:
RCV002706673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000637.2:p.Arg130Ile
CA341332657
NM_000646.2:c.389G>T