ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826248219
Gene: ILDR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2289263
ClinVar RCV Id:
RCV002848908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186729.1:p.His347Tyr
CA354143035
NM_001199800.2:c.1039C>T