ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826540982
Gene: AAGAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3131940
ClinVar RCV Id:
RCV004418799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258814.1:p.Asn60Ser
CA7627082
NM_001271885.2:c.179A>G