ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580130157
Gene: IBA57
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002971336
ClinVar Variation:
2070682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001010867.1:p.Thr106Ser
CA345106732
NM_001010867.4:c.316A>T