ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144018
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55942
ClinVar RCV Id:
RCV000049351
RCV004546425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000018.2:p.Arg116Trp
CA144017
NM_000027.3:c.346C>T