ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830032524
Gene: AAGAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
708822
ClinVar RCV Id:
RCV000880150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078942.3:p.Met110Lys
CA7627163
NM_024666.5:c.329T>A